A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene

Dermatology

Volumn 200, Issue 3, 2000, Pages 262-265

  Handa, Yoshihiro ^a   Yotsumoto, Shinichi ^b   Isobe, Eiichi ^d   Sai, Yoshiyuki ^d   Yoshii, Noriko ^b   Nakao, Shoichiro ^c   Fujita, Naoaki ^d   Hamaguchi, Satoshi ^d   Kanzaki, Tamotsu ^b  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KAGOSHIMA UNIVERSITY   (Japan)

^c KAGOSHIMA UNIVERSITY   (Japan)

^d TOYOHASHI MUNICIPAL HOSPITAL   (Japan)

Author keywords

Clinical manifestations; Fabry's disease; Female; Gene analysis; Heterozygote

Indexed keywords

ALPHA GALACTOSIDASE; ENZYME; SIGNAL PEPTIDE;

ADULT; ARTICLE; CASE REPORT; FABRY DISEASE; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; PRIORITY JOURNAL; SEX DIFFERENCE;

EID: 0034107146     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000018372     Document Type: Article

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