Molecular characterization of 21 X-ALD Portuguese families: Identification of eight novel mutations in the ABCD1 gene

Molecular Genetics and Metabolism

Volumn 76, Issue 1, 2002, Pages 62-67

  Guimarães, Carla P ^a,b   Lemos, Manuela ^a,c   Sá Miranda, Clara ^a,c   Azevedo, Jorge E ^a,b  

^a UNIVERSITY OF PORTO   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

ABCD1 gene; Mutations; Peroxisome disorders; X ALD

Indexed keywords

PROTEIN; PROTEIN ABCD1; UNCLASSIFIED DRUG;

ADOLESCENT; ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; BINDING SITE; CELL CULTURE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GEL ELECTROPHORESIS; GENE DELETION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MUTATION; NONSENSE MUTATION; NORTHERN BLOTTING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST;

ADRENOLEUKODYSTROPHY; ATP-BINDING CASSETTE TRANSPORTERS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FATTY ACIDS; FEMALE; FIBROBLASTS; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; PORTUGAL;

EID: 0036382599     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00023-9     Document Type: Article

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