Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.

Molecular medicine (Cambridge, Mass.)

Volumn 18, Issue , 2012, Pages 780-784

  Chien, Yin Hsiu ^a   Lee, Ni Chung ^b   Chiang, Shu Chuan ^b   Desnick, Robert J ^b   Hwu, Wuh Liang ^b  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE;

ARTICLE; ASIAN; FABRY DISEASE; FEMALE; GENETIC SCREENING; GENETICS; HUMAN; INCIDENCE; MALE; MUTATION; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; RNA SPLICING; TAIWAN;

ALPHA-GALACTOSIDASE; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; FABRY DISEASE; FEMALE; GENETIC TESTING; HUMANS; INCIDENCE; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; RNA SPLICING; TAIWAN;

MLCS; MLOWN;

EID: 84880616117     PISSN: None     EISSN: 15283658     Source Type: Journal    
DOI: 10.2119/molmed.2012.00002     Document Type: Article

References (0)