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A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens

✍ Scribed by F.Yesim K Demirci; Brian W Rigatti; Tammy S Mah; Michael B Gorin


Book ID
116199601
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
249 KB
Volume
138
Category
Article
ISSN
0002-9394

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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