A single base mutation in the type II procollagen gene (COL2A1) that converts glycine α1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia-Reference-Cited by-同舟云学术

A single base mutation in the type II procollagen gene (COL2A1) that converts glycine α1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia

Published:1994 Issue:3 Volume:3 Page:261-267
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Ritvaniemi P.,Sokolov B. P.,Williams C. J.,Considine E.,Yurgenev L.,Meerson E. M.,Ala-Kokko L.,Prockop D. J.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference37 articles.

1. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

2. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

3. An amino acid substitution (Gly853–>Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.

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