Identification of a novel point mutation (S65T) in α-galactosidase A gene in Chinese patients with Fabry disease

Human Mutation

Volumn 11, Issue 4, 1998, Pages 328-330

  Chen, Chia Hsiang ^a,e   Shyu, Pei Wen ^a   Wu, Su Jen ^b   Sheu, Song Shan ^c   Desnick, Robert J ^d   Hsiao, Kwang Jen ^a,b  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e CHENG HSIN REHABILITATION MEDICAL CENTER   (Taiwan)

Author keywords

Fabry disease; Genetics; Mutation; X linked

Indexed keywords

ALPHA GALACTOSIDASE;

ARTICLE; CHINESE; ENZYME DEFICIENCY; FABRY DISEASE; GENETIC LINKAGE; HUMAN; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

ADULT; ALPHA-GALACTOSIDASE; BASE SEQUENCE; DNA PRIMERS; EXONS; FABRY DISEASE; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; TAIWAN; X CHROMOSOME;

EID: 0031967760     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:4<328::AID-HUMU11>3.0.CO;2-N     Document Type: Article

References (11)

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