Clinical and genetic analysis of Fabry disease: Report of six cases including three heterozygous females

Journal of Dermatological Science

Volumn 52, Issue 1, 2008, Pages 61-64

  Nagasaki, Akari ^a   Nishie, Wataru ^a   Sato, Kozo ^b   Oba, Ikuko ^b   Noguchi, Emiko ^c   Akitsu, Hideki ^d   Sawamura, Daisuke ^e   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Sendai Shakaihoken Hospital   (Japan)

^c UNIVERSITY OF TSUKUBA   (Japan)

^d Sapporo Higashi Tokushukai Hospital   (Japan)

^e HIROSAKI UNIVERSITY   (Japan)

Author keywords

Fabry disease; Genotype phenotype correlation; Heterozygous female; Novel mutation

Indexed keywords

GENOMIC DNA;

ADULT; ANHIDROSIS; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA OPACITY; DNA EXTRACTION; FABRY DISEASE; FAMILY; FEMALE; FEVER; GENETIC ANALYSIS; HEART LEFT VENTRICLE HYPERTROPHY; HEMANGIOKERATOMA; HETEROZYGOTE; HUMAN; LETTER; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PARESTHESIA; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEINURIA;

ADULT; ALPHA-GALACTOSIDASE; EXONS; FABRY DISEASE; FEMALE; HETEROZYGOTE; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION, MISSENSE; TRIHEXOSYLCERAMIDES;

EID: 49849093027     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2008.04.009     Document Type: Letter

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