Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: Immunoblotting and immunocytological study of two patients

Clinical Genetics

Volumn 51, Issue 5, 1997, Pages 322-325

  Imamura, Atsushi ^a   Suzuki, Yasuyuki ^a   Song, Xiang Qian ^a   Fukao, Toshiyuki ^a   Uchiyama, Atsushi ^a   Shimozawa, Nobuyuki ^a   Kamijo, Keiju ^b   Hashimoto, Takashi ^b   Orii, Tadao ^a   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Adenosine triphosphate binding cassette; Adrenoleukodystrophy; ALD protein; Missense mutation

Indexed keywords

ADENOSINE TRIPHOSPHATE;

ADRENOLEUKODYSTROPHY; AMINO ACID SEQUENCE; ARTICLE; BINDING SITE; CASE REPORT; CONTROLLED STUDY; EXON; FIBROBLAST; GENE LOCATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN LOCALIZATION; PROTEIN STABILITY;

EID: 0030988430     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02481.x     Document Type: Article

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