Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia-Reference-Cited by-同舟云学术

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Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia

Published:1999-07 Issue:1 Volume:65 Page:31-38
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Holden Paul,Canty Elizabeth G.,Mortier Geert R.,Zabel Bernhard,Spranger Jurgen,Carr Andrew,Grant Michael E.,Loughlin John A.,Briggs Michael D.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference37 articles.

1. Multiple epiphyseal dysplasia, Ribbing type: a novel point mutation in the COMP gene in a South African family;Ballo;Am J Med Genet,1997

2. Multiple epiphyseal dysplasia;Barrie;Br Med J,1958

3. A 5′ splice mutation affecting the pre-mRNA splicing of two upstream exons in the COL1A1 gene;Bateman;Biochem J,1994

4. An intron mutation in the human α1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II;Bonadio;J Biol Chem,1990

5. Molecular cloning of the α3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3;Brewton;Genomics,1995

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