Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

Tiller, G E; Polumbo, P A; Weis, M A; Bogaert, R; Lachman, R S; Cohn, D H; Rimoin, D L; Eyre, D R

Tiller, G E; Polumbo, P A; Weis, M A; Bogaert, R; Lachman, R S; Cohn, D H; Rimoin, D L; Eyre, D R.

Affiliation

Tiller GE; Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.

Nat Genet ; 11(1): 87-9, 1995 Sep.

Article in En | MEDLINE | ID: mdl-7550321

Subject(s)

Collagen/genetics; Genes, Dominant; Osteochondrodysplasias/genetics; Adult; Base Sequence; Child; Collagen/classification; Cysteine; DNA Mutational Analysis; DNA, Complementary/genetics; Female; Glycine; Humans; Infant, Newborn; Male; Molecular Sequence Data; Osteochondrodysplasias/classification; Pedigree; Phenotype; Point Mutation

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Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Collagen / Genes, Dominant Limits: Adult / Child / Female / Humans / Male / Newborn Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 1995 Type: Article Affiliation country: United States

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