Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)

Human Mutation

Volumn 30, Issue 10, 2009, Pages 1397-1405

  Hwu, Wuh Liang ^a   Chien, Yin Hsiu ^a   Lee, Ni Chung ^a   Chiang, Shu Chuan ^a   Dobrovolny, Robert ^b   Huang, Ai Chu ^a   Yeh, Hui Ying ^a   Chao, May Chin ^c   Lin, Shio Jean ^d   Kitagawa, Teruo ^e   Desnick, Robert J ^b   Hsu, Li Wen ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^d NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

^e Tokyo Association of Health Service   (Japan)

Author keywords

galactosidase a deficiency; Fabry disease; GLA; Newborn screening

Indexed keywords

ALPHA GALACTOSIDASE;

AMINO ACID SEQUENCE; ARTICLE; CHEMISTRY; FABRY DISEASE; FEMALE; GENETICS; HUMAN; INCIDENCE; MALE; MOLECULAR GENETICS; NEWBORN; NEWBORN SCREENING; ONSET AGE; PEDIGREE; PHENOTYPE; SEQUENCE HOMOLOGY; TAIWAN;

AGE OF ONSET; ALPHA-GALACTOSIDASE; AMINO ACID SEQUENCE; FABRY DISEASE; FEMALE; HUMANS; INCIDENCE; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; NEONATAL SCREENING; PEDIGREE; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID; TAIWAN;

EID: 73349136303     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21074     Document Type: Article

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