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Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients

✍ Scribed by Ryoko Koike; Osamu Onodera; Hiroyuki Tabe; Kiyotoshi Kaneko; Tadashi Miyatake; Shinichi Iwasaki; Misa Nakano; Nami Shizuma; Kunihiko Ikeguchi; Masatoyo Nishizawa; Jean Mosser; Claude-Olivier Sarde; Shoji Tsuji


Book ID
102261593
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
445 KB
Volume
6
Category
Article
ISSN
1059-7794

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πŸ“œ SIMILAR VOLUMES


X-linked adrenoleukodystrophy with parti
✍ Tadashi Matsumoto; Noriko Miyake; Yoshiaki Watanabe; Gaku Yamanaka; Shingo Oana; πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 161 KB

X-linked adrenoleukodystrophy (X-ALD) is a congenital peroxysomal disorder caused by mutations in the ALD protein gene (ALD or ABCD1) located to Xq28 [Mosser et al., 1993]. Its phenotype is variable, ranging from the severe childhood cerebral form that is associated with rapidly progressive demyelin