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Article

Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).

American journal of medical genetics - 3 May 1996

Kaitila I, Körkkö J, Marttinen E, Ala-Kokko L

Abstract excerpt

Type II collagenopathies consist of chondrodysplasias ranging from lethal to mild in severity. A large number of mutations has been found in the COL2A1 gene. Glycine substitutions have been the most common types of mutation. Genotype-phenotype correlations in type II collagenopathies have not been established, partly because of insufficient clinical and radiographic description of the patients. We found a...

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PMID: 8723096
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<111::AID-AJMG21>3.0.CO;2-Q

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Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).PMID 8723096Read ↗

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