First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Korenke, G Christoph ^a   Krasemann, Ernst ^a   Meier, Volker ^a   Beuche, Wolfgang ^a   Hunneman, D H ^a   Hanefeld, F ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABCD1 PROTEIN, HUMAN; DNA; MEMBRANE PROTEIN; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE;

ADRENOLEUKODYSTROPHY; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHEMISTRY; EXON; FAMILY HEALTH; FEMALE; GENETICS; HUMAN; MALE; METABOLISM; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; POINT MUTATION; ADULT; CHROMOSOME 10; GENE FREQUENCY; PRIORITY JOURNAL; SIBLING; X CHROMOSOME LINKAGE;

ADRENOLEUKODYSTROPHY; AMINO ACID SUBSTITUTION; ATP-BINDING CASSETTE TRANSPORTERS; DEOXYRIBONUCLEASE HPAII; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; POINT MUTATION;

EID: 0032252408     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110166     Document Type: Article

References (14)

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