SCOPUS 정보 검색 플랫폼

Volumn 8, Issue 8, 2000, Pages 649-651

Identification of genetic heterogeneity in Refsum's disease

(8) Wierzbicki, Anthony S a,b Mitchell, John c Lambert Hammill, Michelle a Hancock, Margaret b Greenwood, Juliet c Sidey, Margaret C b De Belleroche, Jacqueline c Gibberd, F Brian b

a KING'S COLLEGE LONDON (United Kingdom)

b CHELSEA AND WESTMINSTER HOSPITAL (United Kingdom)

c CHARING CROSS HOSPITAL (United Kingdom)

Author keywords

Heterogeneity; Linkage; Phytanic acid; Refsum's disease

Indexed keywords

COENZYME A; OXYGENASE; PHYTANIC ACID;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 10P; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DINUCLEOTIDE REPEAT; DISORDERS OF PEROXISOMAL FUNCTIONS; FEMALE; GENE LOCATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; MALE; OXIDATION; PEROXISOME; PHENOTYPE; PRIORITY JOURNAL; REFSUM DISEASE;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; CONSANGUINITY; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; MIXED FUNCTION OXYGENASES; PEDIGREE; REFSUM DISEASE;

EID: 0033882699 PISSN: 10184813 EISSN: None Source Type: Journal
DOI: 10.1038/sj.ejhg.5200511 Document Type: Article

Times cited : (36)

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