Novel SLC37A4 mutations in Korean patients with glycogen storage disease Ib

Annals of Laboratory Medicine

Volumn 37, Issue 3, 2017, Pages 261-266

  Choi, Rihwa ^a   Park, Hyung Doo ^a   Ko, Jung Min ^b   Lee, Jeongho ^c   Lee, Dong Hwan ^c   Hong, Suk Jin ^d   Ki, Chang Seok ^a   Lee, Soo Youn ^a   Kim, Jong Won ^a   Song, Junghan ^e   Choe, Yon Ho ^a  

^a Samsung Medical Center   (South Korea)

^b Seoul National University Children's Hospital   (South Korea)

^c Soonchunhyang University College of Medicine   (South Korea)

^d Catholic University of Daegu   (South Korea)

^e Seoul National University Bundang Hospital   (South Korea)

Author keywords

Glycogen storage disease; GSD Ib; Korean population; Mutation; SLC37A4

Indexed keywords

ANTIPORTER; GLUCOSE TRANSPORTER; SLC37A4 PROTEIN, HUMAN;

ALLELE; ASIAN CONTINENTAL ANCESTRY GROUP; CASE REPORT; CHILD; EXON; FEMALE; GENE DELETION; GENETIC POLYMORPHISM; GENETICS; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE I; HUMAN; INFANT; MALE; MISSENSE MUTATION; SOUTH KOREA;

ALLELES; ANTIPORTERS; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; EXONS; FEMALE; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; INFANT; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; REPUBLIC OF KOREA; SEQUENCE DELETION;

EID: 85015602662     PISSN: 22343806     EISSN: 22343814     Source Type: Journal    
DOI: 10.3343/alm.2017.37.3.261     Document Type: Article

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