Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene

Journal of Clinical Investigation

Volumn 94, Issue 2, 1994, Pages 516-520

  Fanen, Pascale ^a   Guidoux, Sylvie ^b   Sarde, Claude Olivier ^c   Mandel, Jean Louis ^c   Goossens, Michel ^a   Aubourg, Patrick ^b  

^a HENRI MONDOR HOSPITAL   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

ABC transporter; denaturing gradient gel electrophoresis; peroxisomal disorder; point mutations; X linked genetic disease

Indexed keywords

ADENOSINE TRIPHOSPHATE; AMINO ACID; DNA; NUCLEOTIDE; PROTEIN; VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 0027978453     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI117363     Document Type: Article

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