A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b

Journal of Korean Medical Science

Volumn 20, Issue 3, 2005, Pages 499-501

  Han, Sung Hee ^a   Ki, Chang Seok ^a   Lee, Ji Eun ^b   Hong, Young Jin ^b   Son, Byong Kwan ^b   Lee, Kyung Hee ^b   Choe, Yon Ho ^a   Lee, Soo Youn ^a   Kim, Jong Won ^a,c  

^a Sungkyunkwan University   (South Korea)

^b Inha University School of Medicine   (South Korea)

^c Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

Genes; Glycogen Storage Disease; Glycogen Storage Disease Type 1; GSD 1b; Mutation; SLC37A4 Gene

Indexed keywords

GLUCOSE 6 PHOSPHATE;

ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DELAYED PUBERTY; DIAGNOSTIC TEST; ENTERITIS; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE; HETEROZYGOSITY; HOSPITAL ADMISSION; HUMAN; INHERITANCE; KOREA; LABORATORY TEST; LIVER BIOPSY; MALE; MUTATION RATE; NEUTROPENIA; SCHOOL CHILD; SHORT STATURE;

EID: 21344453534     PISSN: 10118934     EISSN: None     Source Type: Journal    
DOI: 10.3346/jkms.2005.20.3.499     Document Type: Article

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