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New compound heterozygous mutations in a Chinese family with lipoid proteinosis

✍ Scribed by C.Y. Wang; P.Z. Zhang; F.R. Zhang; J. Liu; H.Q. Tian; L. Yu


Book ID
108668852
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
351 KB
Volume
155
Category
Article
ISSN
0007-0963

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## Abstract We investigated the presence of mutations in the pantothenate kinase (__PANK2__) gene in a 27‐year‐old male Chinese patient with atypical pantothenate kinase‐associated neurodegeneration (PKAN), formerly Hallervorden‐Spatz syndrome. Automated DNA sequence analyses revealed compound hete