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Human Genetics

Volumn 95, Issue 2, 1995, Pages 235-237

De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene

(7) Barcelo A a Giros M b Sarde, C O c Pintos, G d Mandel, J L c Pampols T b Estivill, X a

a HOSPITAL CLÍNIC (Spain)

b Institut de Bioquimica Clinica Barcelona (Spain)

c UNIVERSITÉ DE STRASBOURG (France)

d HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENOLEUKODYSTROPHY; ARTICLE; CASE REPORT; EXON; GENETICS; HUMAN; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; AMINO ACID SUBSTITUTION; CHILD; CONTROLLED STUDY; FATTY ACID OXIDATION; GENE MUTATION; LEUKOCYTE; PEROXISOME; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

ADRENOLEUKODYSTROPHY; BASE SEQUENCE; CASE REPORT; CHILD, PRESCHOOL; EXONS; HUMAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; SUPPORT, NON-U.S. GOV'T;

SERINE; TYROSINE; VERY LONG CHAIN FATTY ACID;

EID: 0028984934 PISSN: 03406717 EISSN: 14321203 Source Type: Journal
DOI: 10.1007/BF00209412 Document Type: Article

Times cited : (12)

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