Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease (Q35195297)

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English	Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease	scientific article

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17 September 2019

Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease (English)

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17 September 2019

author name string

Murray EW

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17 September 2019

Giles AR

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17 September 2019

Lillicrap D

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1 January 1992

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17 September 2019

American Journal of Human Genetics

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17 September 2019

1

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17 September 2019

199-207

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17 September 2019

Pseudo-von Willebrand's disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers

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13 July 2018

Variant von Willebrand's disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets

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13 July 2018

The varieties of von Willebrand's disease.

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13 July 2018

Type IIB Tampa: a variant of von Willebrand disease with chronic thrombocytopenia, circulating platelet aggregates, and spontaneous platelet aggregation.

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13 July 2018

Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization.

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13 July 2018

Type IIB von Willebrand's disease presenting as thrombocytopenia during pregnancy

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13 July 2018

The CpG dinucleotide and human genetic disease

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13 July 2018

Gonadal mosaicism in pseudoachondroplasia.

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13 July 2018

Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease

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13 July 2018

A somatic mosaic for haemophilia A detected at the DNA level.

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13 July 2018

Review and hypotheses: somatic mosaicism: observations related to clinical genetics

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13 July 2018

Type IIB von Willebrand factor with normal sialic acid content induces platelet aggregation in the absence of ristocetin. Role of platelet activation, fibrinogen, and two distinct membrane receptors

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13 July 2018

Gene deletions correlate with the development of alloantibodies in von Willebrand disease

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13 July 2018

Maternal duplication associated with gene deletion in sporadic hemophilia

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13 July 2018

Genetic linkage of two intragenic restriction fragment length polymorphisms with von Willebrand's disease type IIA. Evidence for a defect in the von Willebrand factor gene

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13 July 2018

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

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13 July 2018

Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA.

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13 July 2018

Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

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13 July 2018

Structure of the gene for human von Willebrand factor

1 reference

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13 July 2018

Mosaicism and sporadic haemophilia: implications for carrier determination

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13 July 2018

Distinct abnormalities in the interaction of purified types IIA and IIB von Willebrand factor with the two platelet binding sites, glycoprotein complexes Ib-IX and IIb-IIIa

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13 July 2018

Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor

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13 July 2018

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

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13 July 2018

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

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13 July 2018

Molecular analysis of hemophilia A mutations in the Finnish population

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13 July 2018

Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor

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13 July 2018

Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences

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13 July 2018

Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction

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13 July 2018

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

1 reference

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13 July 2018

Somatic origin of inherited haemophilia A.

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13 July 2018

Ristocetin and botrocetin involve two distinct domains of von Willebrand factor for binding to platelet membrane glycoprotein Ib

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682529

13 July 2018

Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr)

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13 July 2018

The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain

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13 July 2018

Molybdenum cofactors from molybdoenzymes and in vitro reconstitution of nitrogenase and nitrate reductase

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13 July 2018

Germinal mosaicism in Apert syndrome

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27 September 2018

Structure of the von Willebrand factor domain interacting with glycoprotein Ib.

1 reference

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27 September 2018

Germline mosaicism and Duchenne muscular dystrophy mutations

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15 November 2018

Cosegregation of von Willebrand factor gene polymorphisms and possible germinal mosaicism in type IIB von Willebrand disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1729889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parameters affecting susceptibility of PCR contamination to UV inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/1729889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germinal mosaicism in Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1729889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1729889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe type III von Willebrand's disease caused by deletion of exon 42 of the von Willebrand factor gene: family studies that identify carriers of the condition and a compound heterozygous individual

1 reference

https://pubmed.ncbi.nlm.nih.gov/1729889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid neonatal diagnosis of von Willebrand's disease by use of the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/1729889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enhanced botrocetin-induced type IIB von Willebrand factor binding to platelet glycoprotein Ib initiates hyperagglutination of normal platelets

1 reference

https://pubmed.ncbi.nlm.nih.gov/1729889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Platelet-type von Willebrand's disease: characterization of a new bleeding disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/1729889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1729889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of a bleeding tendency in severe acquired von Willebrand's disease. The role of platelet von Willebrand factor in maintaining normal hemostasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1729889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic analysis of porcine von Willebrand disease: tight linkage to the von Willebrand factor locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/1729889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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17 September 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1729889%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

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