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Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome

✍ Scribed by Liu, L; Dong, B; Chen, X; Li, J; Li, Y


Book ID
109851913
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
185 KB
Volume
23
Category
Article
ISSN
0950-222X

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The Wiskott-Aldrich Syndrome (WAS) is an X-linked recessive immunodeficiency caused by mutation in the gene encoding WAS protein (WASP). The disease is characterized by eczema, thrombocytopenia and severe immunodeificency and is associated with extensive clinical heterogeneity. Mutation studies indi