High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry

Molecular Genetics and Metabolism

Volumn 111, Issue 4, 2014, Pages 507-512

  Lee, Sheng Hung ^a   Li, Cheng Fang ^b   Lin, Hsiang Yu ^c,d,e   Lin, Chien Hsing ^f   Liu, Hao Chuan ^b   Tsai, Shih Feng ^a,g   Niu, Dau Ming ^a,b  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c MACKAY MEMORIAL HOSPITAL   (Taiwan)

^d MACKAY JUNIOR COLLEGE OF MEDICINE   (Taiwan)

^e MACKAY MEDICAL COLLEGE   (Taiwan)

^f Feng Chi Biotech Corp   (Taiwan)

^g NATIONAL HEALTH RESEARCH INSTITUTES   (Taiwan)

Author keywords

Fabry disease; GLA genotyping; Sequenom iPLEX assay; Sequenom's MassARRAY

Indexed keywords

DNA;

ACCURACY; ARTICLE; BLOOD; CLINICAL ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DOUBLE BLIND PROCEDURE; DRIED BLOOD SPOT TESTING; EARLY INTERVENTION; EXON; FABRY DISEASE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; GLA GENE; HIGH THROUGHPUT SCREENING; HUMAN; INTRON; MALE; MASS SCREENING; MASS SPECTROMETRY; NEWBORN SCREENING; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL; SENSITIVITY ANALYSIS; TAIWAN; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROCEDURES;

BASE SEQUENCE; DNA; FABRY DISEASE; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MASS SPECTROMETRY; MUTATION; POLYMERASE CHAIN REACTION; TAIWAN;

EID: 84897577226     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.02.004     Document Type: Article

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