Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.

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Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.

J Med Genet. 2004 Jan;41(1):75-9.

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14729840 [ View in PubMed
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Polypeptides
NameUniProt ID
Collagen alpha-1(II) chainP02458Details