Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family (Q57784136)

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23 September 2019

title

Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family (English)

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23 September 2019

main subject

Ehlers-Danlos syndrome

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author

Gerard Tromp

3

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23 September 2019

author name string

B P Sokolov

1

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23 September 2019

A N Prytkov

2

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23 September 2019

R G Knowlton

4

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23 September 2019

D J Prockop

5

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23 September 2019

publication date

1 December 1991

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23 September 2019

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23 September 2019

volume

88

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23 September 2019

issue

2

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23 September 2019

page(s)

125-129

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https://scigraph.springernature.com/pub.10.1007/bf00206058

23 September 2019

exact match

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cites work

A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain

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12 December 2020

Same-day, first-trimester antenatal diagnosis for cystic fibrosis by gene amplification

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Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases

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A Heritable Disorder of Connective Tissue

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Presumed homozygous Ehlers-Danlos syndrome type I in a highly inbred kindred

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Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy- a new hereditary syndrome

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Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient.

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

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Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.

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12 December 2020

Genetic analysis of the Ehlers-Danlos syndrome in a large family tree

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12 December 2020

Connective tissue metabolism in culture fibroblasts of a patient with Ehlers-Danlos syndrome type I

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12 December 2020

Mutations in collagen genes: causes of rare and some common diseases in humans

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12 December 2020

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

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Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.

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Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome

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Abnormal properties of collagen lysyl hydroxylase from skin fibroblasts of siblings with hydroxylysine-deficient collagen

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12 December 2020

A 15 base-pair AT-rich variable number tandem repeat in the type III procollagen gene (COL3A1) as an informative marker for 2q31-2q32.3

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12 December 2020

Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

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12 December 2020

A new form of Ehlers-Danlos syndrome. Fibronectin corrects defective platelet function

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Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2.

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12 December 2020

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

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12 December 2020

Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein.

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Type IX Ehlers-Danlos syndrome. A new variant with pathognomonic radiographic features

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Osteogenesis imperfecta is linked to both type I collagen structural genes

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'Composites'--an aberrant structure of the collagen fibril.

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12 December 2020

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII

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12 December 2020

Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin

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12 December 2020

Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders

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12 December 2020

C to T polymorphism in exon 33 of the COL3A1 gene

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12 December 2020

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

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12 December 2020

Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not othe

1 reference

12 December 2020

Biochemical characterization of variants of the Ehlers-Danlos syndrome type VI

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12 December 2020

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen

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12 December 2020

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

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12 December 2020

A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.

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12 December 2020

Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII

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12 December 2020

A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV

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12 December 2020

Structural characteristics of collagens from the skin and rib cartilage of patients with Ehlers-Danlos syndrome type II

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12 December 2020

[Various characteristics of the structure and synthesis of procollagens produced by cultured skin fibroblasts from patients with Danlos-Ehlers syndrome type I]

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12 December 2020

PERSISTENT JOINT LAXITY AND CONGENITAL DISLOCATION OF THE HIP

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12 December 2020

Morphometric study of cauliflower collagen fibrils in Ehlers-Danlos syndrome type I

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12 December 2020

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12 December 2020

A sequence polymorphism in the 3'-nontranslated region of the pro alpha 1 chain of type I procollagen

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12 December 2020

Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency

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12 December 2020

Existence of malfunctioning pro alpha2(I) collagen genes in a patient with a pro alpha 2(I)-chain-defective variant of Ehlers-Danlos syndrome

1 reference

12 December 2020

PvuII polymorphism at the COL1A2 locus

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00206058

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1684560%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Microsoft Academic ID

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