Comprehensive genetic analyses of PLP1 in patients with Pelizaeus–Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications

Author:

Shimojima Keiko,Inoue Takehiko,Hoshino Ai,Kakiuchi Satsuki,Watanabe Yoshiaki,Sasaki Masayuki,Nishimura Akira,Takeshita-Yanagisawa Akiko,Tajima Go,Ozawa Hiroshi,Kubota Masaya,Tohyama Jun,Sasaki Masayuki,Oka Akira,Saito Kayoko,Osawa Makiko,Yamamoto Toshiyuki

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference37 articles.

1. Pelizaeus–Merzbacher disease: clinical and nosological study;Boulloche;J Child Neurol,1986

2. Pelizaeus–Merzbacher disease;Koeppen;J Neuropathol Exp Neurol,2002

3. PLP1-related inherited dysmyelinating disorders: Pelizaeus–Merzbacher disease and spastic paraplegia type 2;Inoue;Neurogenetics,2005

4. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder;Hudson;Proc Natl Acad Sci USA,1989

5. Pelizaeus–Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein;Gencic;Am J Hum Genet,1989

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