Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP

Human Genetics

Volumn 109, Issue 6, 2001, Pages 616-622

  Guimarães, Carla P ^a,b,c   Lemos, Manuela ^a,b,c   Menezes, Isabel ^b,c,d   Coelho, Teresa ^b,c,d   Sá Miranda, Clara ^a,b,c   Azevedo, Jorge E ^a,b,c  

^a IBMC Oporto University   (Poland)

^b UNIVERSITY OF PORTO   (Portugal)

^c IGMJM   (Poland)

^d HGSA   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; MESSENGER RNA;

ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; CASE REPORT; DISEASE COURSE; DISEASE SEVERITY; EXON; FIBROBLAST CULTURE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HUMAN CELL; INTRON; MALE; MOLECULAR DYNAMICS; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS; WESTERN BLOTTING; X CHROMOSOME RECESSIVE DISORDER;

EID: 0035680308     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-001-0632-z     Document Type: Article

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