Identification of PEX7 as the second gene involved in Refsum disease

American Journal of Human Genetics

Volumn 72, Issue 2, 2003, Pages 471-477

  Van Den Brink, Daan M ^a   Brites, Pedro ^a   Haasjes, Janet ^a   Wierzbicki, Anthony S ^b,c   Mitchell, John ^d   Lambert Hamill, Michelle ^b   De Belleroche, Jacqueline ^d   Jansen, Gerbert A ^a   Waterham, Hans R ^a   Wanders, Ronald J A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c CHELSEA AND WESTMINSTER HOSPITAL   (United Kingdom)

^d CHARING CROSS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYL COENZYME A ACETYLTRANSFERASE; CELL RECEPTOR; OXYGENASE; PEROXIN 7 RECEPTOR; PHYTANIC ACID; PHYTANOYL COENZYME A HYDROXYLASE; PLASMALOGEN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CELL FUNCTION; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME 6Q; ENZYME DEFICIENCY; FEMALE; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; LINKAGE ANALYSIS; MALE; MUTATIONAL ANALYSIS; PEROXISOME; PEX7 GENE; POLYNEUROPATHY; PRIORITY JOURNAL; PROTEIN TRANSPORT; REFSUM DISEASE; RETINITIS PIGMENTOSA; SCHOOL CHILD;

ATAXIA;

EID: 0037318856     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/346093     Document Type: Article

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