Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)

Human Molecular Genetics

Volumn 3, Issue 10, 1994, Pages 1903-1905

  Fuchs, Sigrid ^a,b   Sarde, Claude Olivier ^a,b   Wedemann, Heike ^a,b   Schwinger, Eberhard ^a,b   Mandel, Jean Louis ^a,b   Gal, Andreas ^a,b  

^a UNIVERSITY OF LÜBECK   (Germany)

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

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; PRIMER DNA; RESTRICTION ENDONUCLEASE;

ADRENOLEUKODYSTROPHY; ARTICLE; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE MUTATION; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADRENOLEUKODYSTROPHY; AMINO ACID SEQUENCE; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CASE REPORT; CODON; CONSERVED SEQUENCE; DNA PRIMERS; EXONS; FEMALE; HUMAN; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SUPPORT, NON-U.S. GOV'T; X CHROMOSOME;

EID: 0027997360     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/3.10.1903     Document Type: Note

References (14)

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