TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.

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Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura K

TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.

Am J Med Genet A. 2004 May 15;127A(1):104-7.

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15103729 [ View in PubMed
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Polypeptides
NameUniProt ID
Transforming growth factor beta-1P01137Details