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Two novel missense mutations in the ATP‐binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients
Author(s) -
Imamura Atsushi,
Suzuki Yasuyuki,
Song XiangQian,
Fukao Toshiyuki,
Uchiyama Atsushi,
Shimozawa Nobuyuki,
Kamijo Keiju,
Hashimoto Takashi,
Orii Tadao,
Kondo Naomi
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02481.x
Subject(s) - missense mutation , adrenoleukodystrophy , exon , mutation , microbiology and biotechnology , gene , biology , genetics , peroxisome
Two novel missense mutations, 1939G to A (R518Q) and 20I7A to G (Q544R) were identified in Japanese patients with adrenoleukodystrophy (ALD). They are located in exon 6, which encodes part of the putative adenosine triphosphate binding domain of ALD protein. The ALD protein carrying the R518Q mutation was undetectable in fibroblasts, by immunoblot and immunofluorescence analysis, white the Q544R mutation had no apparent effect on the stability and localization of the ALD protein, but is expected to affect its function.