A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy

The Japanese Journal of Human Genetics

Volumn 39, Issue 3, 1994, Pages 345-351

  Matsumoto, Tadashi ^a   Kondoh, Tatsuro ^a,b   Masuzaki, Hideaki ^a   Harada, Naoki ^c   Matsusaka, Tetsuo ^a   Kinoshita, Ei ichi ^a   Takeo, Goh ^a   Tsujihata, Mitsuhiro ^a   Suzuki, Yasuyuki ^d   Tsuji, Yoshiro ^a  

^a NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Nagasaki Kawatana Medical Center   (Japan)

^c Kyushu Medical Science   (Japan)

^d GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

ATP binding site; point mutation; prenatal diagnosis; X linked adrenoleukodystrophy

Indexed keywords

ADENOSINE TRIPHOSPHATE;

ADRENOLEUKODYSTROPHY; ARTICLE; BINDING SITE; CASE REPORT; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; PRENATAL DIAGNOSIS;

ADENOSINE TRIPHOSPHATE; ADRENOLEUKODYSTROPHY; BASE SEQUENCE; BINDING SITES; CASE REPORT; FEMALE; FETAL DISEASES; GENES; HUMAN; LINKAGE (GENETICS); MALE; MIDDLE AGE; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; X CHROMOSOME;

EID: 0027985233     PISSN: 09168478     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1007/BF01874053     Document Type: Article

References (11)

1. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein
2. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome
3. Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters
4. Deletion pattern in the 21-hydroxylase gene detected by polymerase chain reaction
5. Adrenoleukodystrophy
6. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
7. PCR detection of structurally abnormal Y chromosome
8. Effects of sodium 2-[5-(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases
9. Abnormality of long-chain fatty acids in erythrocyte membrane sphingomyelin from patients with adrenoleukodystrophy
10. Penetrating the peroxisome