Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia

Clinical Genetics

Volumn 65, Issue 6, 2004, Pages 487-489

  Ki, C S ^a   Han, S H ^a   Kim, H J ^a   Lee, S G ^a   Kim, E J ^a   Kim, Jong Won ^a   Choe, Y H ^a   Seo, J K ^b   Chang, Y J ^b   Park, J Y ^b  

^a Sungkyunkwan University   (South Korea)

^b Seoul National University College of Medicine   (South Korea)

Author keywords

G6PC; Glucose 6 phosphatase; Glycogen storage disease type la; Korean; Mutation

Indexed keywords

ALANINE; ASPARTIC ACID; GLUCOSE 6 PHOSPHATASE; GLYCINE; GUANINE; PROLINE; THYMIDINE; TYROSINE;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 1; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KOREA; LIVER BIOPSY; MUTATIONAL ANALYSIS; NON INVASIVE MEASUREMENT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RACE DIFFERENCE;

DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; KOREA; MUTATION;

EID: 2942711850     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00260.x     Document Type: Article

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