(Q35198349)

English

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent

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scholarly article

1 reference

Europe PubMed Central

7 August 2017

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent (English)

1 reference

Europe PubMed Central

7 August 2017

osteogenesis imperfecta

0 references

author name string

G A Wallis

1

1 reference

Europe PubMed Central

7 August 2017

B J Starman

2

1 reference

Europe PubMed Central

7 August 2017

A B Zinn

3

1 reference

Europe PubMed Central

7 August 2017

P H Byers

4

1 reference

Europe PubMed Central

7 August 2017

language of work or name

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publication date

1 June 1990

1 reference

Europe PubMed Central

7 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

7 August 2017

46

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Europe PubMed Central

7 August 2017

1034-1040

1 reference

Europe PubMed Central

7 August 2017

6

1 reference

Europe PubMed Central

7 August 2017

Analysis of the heterogeneity of human collagens by two-dimensional polyacrylamide-gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683813

13 July 2018

A system for shotgun DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683813

13 July 2018

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683813

13 July 2018

Osteogenesis imperfecta: the molecular basis of clinical heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683813

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683813

13 July 2018

A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstab

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683813

13 July 2018

Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683813

13 July 2018

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683813

13 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683813

13 July 2018

Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683813

13 July 2018

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683813

13 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683813

13 July 2018

Two-dimensional CNBr peptide patterns of collagen types I, II and III

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339700

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339700

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339700

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339700

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

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