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Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism (2001)

Ueki, Yasuyoshi ; Tiziani, Valdenize ; Santanna, Carla ; [et al.]

[s.l.] : Nature Publishing Group

Nature genetics 28 (2001), S. 125-126

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ISSN: 1546-1718

Source: Nature Archives 1869 - 2009

Topics: Biology , Medicine

Notes: [Auszug] Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Here we describe seven mutations in the SH3-binding protein ...

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1038/88832

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