A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals-Reference-Cited by-同舟云学术

A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals

Published:1994 Issue:4 Volume:3 Page:391-394
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Rose Nicola J.,Mackay Katrina,Byers Peter H.,Dalgleish Raymond

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. PCR detection of five restriction site dimorphisms at the type I collagen loci COL1A1 and COL1A2

2. Chemical cleavage method for the detection of RNA base changes: Experience in the application to collagen mutations in osteogenesis imperfecta

3. On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the Black population of South Africa

4. (1993) Osteogenesis imperlecta. In (eds): Connective Tissue and Its Heritable Disorders: Molecular, Genetic and Medical Aspects. New York: Wiley-Liss, pp 317-350.

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships;Human Molecular Genetics;2008-11-07

2. Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis;Osteoporosis;2001

3. Use of the Cre/lox Recombination System to Develop a Non-lethal Knock-in Murine Model for Osteogenesis Imperfecta with an α1(I) G349C Substitution;Journal of Biological Chemistry;1999-12

4. Phenotypic Comparison of an Osteogenesis Imperfecta Type IV Proband with ade Novoα2(I) Gly922 → Ser Substitution in Type I Collagen and an Unrelated Patient with an Identical Mutation;Biochemical and Molecular Medicine;1997-10

5. Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV;Acta Paediatrica;1997-07