Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin

Genetics in Medicine

Volumn 15, Issue 2, 2013, Pages 106-114

  Wang, Jing ^a   Cui, Hong ^a   Lee, Ni Chung ^b   Hwu, Wuh Liang ^b   Chien, Yin Hsiu ^b   Craigen, William J ^a   Wong, Lee Jun ^a   Zhang, Victor Wei ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

glycogen storage disease; massively parallel sequencing; next generation sequencing; target gene enrichment

Indexed keywords

NUCLEOTIDE DERIVATIVE;

ADOLESCENT; ADULT; AGL GENE; ARTICLE; CHILD; CLINICAL ARTICLE; EXON; FEMALE; G6PC GENE; GAA GENE; GBE1 GENE; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE; GYS1 GENE; GYS2 GENE; HUMAN; INFANT; MALE; MASSIVELY PARALLEL SEQUENCING; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; PFKM GENE; PGAM2 GENE; PGM1 GENE; PHKA1 GENE; PHKA2 GENE; PHKB GENE; PHKG2 GENE; PRESCHOOL CHILD; PYGL GENE; PYGM GENE; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; SLC37A4 GENE;

EID: 84873544259     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.104     Document Type: Article

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