Natural variation in four human collagen genes across an ethnically diverse population (Q37333002)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18272325%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

title

Natural variation in four human collagen genes across an ethnically diverse population (English)

1 reference

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2 January 2020

9

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2 January 2020

Tingfung Chan

1

1 reference

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2 January 2020

Peter H. Byers

7

1 reference

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2 January 2020

author name string

Annie Poon

2

1 reference

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2 January 2020

Analabha Basu

3

1 reference

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2 January 2020

Nick R Addleman

4

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2 January 2020

Justin Chen

5

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2 January 2020

Angie Phong

6

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2 January 2020

Teri E Klein

8

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2 January 2020

publication date

12 February 2008

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2 January 2020

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2 January 2020

volume

91

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2 January 2020

issue

4

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2 January 2020

page(s)

307-314

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Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

2 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Estimation of the coancestry coefficient: basis for a short-term genetic distance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

A "silent" polymorphism in the MDR1 gene changes substrate specificity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Statistical tests for detecting positive selection by utilizing high-frequency variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

An initial map of insertion and deletion (INDEL) variation in the human genome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

VISTA: computational tools for comparative genomics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Natural variation in human membrane transporter genes reveals evolutionary and functional constraints

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

The human genome browser at UCSC

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Positive and negative selection on the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Haplotype variation and linkage disequilibrium in 313 human genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Primer3 on the WWW for general users and for biologist programmers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Construction of phylogenetic trees

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Statistical method for testing the neutral mutation hypothesis by DNA polymorphism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Codon usage in yeast: cluster analysis clearly differentiates highly and lowly expressed genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Sequencing errors or SNPs at splice-acceptor guanines in dbSNP?

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2737816

Is the most frequent allele the oldest?

3 December 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.12.008

RARE ALLELES AS INDICATORS OF GENE FLOW

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.12.008

10.1016/J.YGENO.2007.12.008

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18272325%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18272325%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference