Genetic analysis of the glucose-6-phosphatase mutation of type la glycogen storage disease in a Chinese family

Clinical Genetics

Volumn 50, Issue 4, 1996, Pages 206-211

  Lee, Wen Jane ^a   Lee, Hsien Ming ^a   Chi, Ching Shiang ^a   Shu, San Ging ^a   Lin, Lih Yaun ^b   Lin, Wen Han ^a  

^a TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL TSING HUA UNIVERSITY   (Taiwan)

Author keywords

Glucose 6 phosphatase gene; Single nucleotide substitution; Type 1a glycogen storage disease

Indexed keywords

ADENINE; ARGININE; GLUCOSE 6 PHOSPHATASE; GUANINE; HISTIDINE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONTROLLED STUDY; EXON; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 1; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING; TAIWAN;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HETEROZYGOTE DETECTION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; TAIWAN;

EID: 0030474819     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb02627.x     Document Type: Article

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