Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum-Reference-Cited by-同舟云学术

Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

Published:1998-02 Issue:2 Volume:62 Page:311-319
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Briggs Michael D.,Mortier Geert R.,Cole William G.,King Lily M.,Golik Steven S.,Bonaventure Jacky,Nuytinck Lieve,De Paepe Anne,Leroy Jules G.,Biesecker Leslie,Lipson Mark,Wilcox William R.,Lachman Ralph S.,Rimoin David L.,Knowlton Robert G.,Cohn Daniel H.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference33 articles.

1. Trinucleotide repeat expansions and human diseases;Ashley;Annu Rev Genet,1996

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

3. Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene;Briggs;Am J Hum Genet,1994

4. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene;Briggs;Nat Genet,1995

5. Genetic linkage of pseudoachondroplasia to markers in the pericentromeric region of chromosome 19;Briggs;Genomics,1993

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