Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
Kinoshita A; Saito T; Tomita H; Makita Y; Yoshida K; Ghadami M; Yamada K; Kondo S; Ikegawa S; Nishimura G; Fukushima Y; Nakagomi T; Saito H; Sugimoto T; Kamegaya M; Hisa K; Murray JC; Taniguchi N; Niikawa N; Yoshiura K; Nature Genetics, 2000, vol. 26, issue 1, p 19, ISSN 10614036. ISBN 10614036.

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