Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia
Author:
Publisher
Wiley
Subject
Genetics (clinical)
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. Multiple Epiphysial Dysplasia
4. DOUBLE COXA VARA WITH OTHER DEFORMITIES OCCURRING IN BROTHER AND SISTER.
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1. Genetics of osteoarthritis;Rheumatology;2011
2. The unfolded protein response and its relevance to connective tissue diseases;Cell and Tissue Research;2009-10-23
3. Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein ( COMP ) gene: further expansion of the phenotypic variations of COMP defects;Skeletal Radiology;2002-12-01
4. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations;Human Mutation;2002-04-10
5. COL9A3: A Third Locus for Multiple Epiphyseal Dysplasia;The American Journal of Human Genetics;1999-04
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