Glucose-6-phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a

Clinical Genetics

Volumn 53, Issue 3, 1998, Pages 184-190

  Lam, Ching Wan ^a   But, Wai Man ^b   Shek, Chi Chung ^b   Tong, Sui Fan ^a   Chan, Yuen Shan ^a   Choy, Kwong Wai ^a   Tse, Wing Yee ^b   Pang, Chi Pui ^a   Hjelm, Nils Magnus ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b QUEEN ELIZABETH HOSPITAL   (Hong Kong)

Author keywords

Founder and drift hypothesis; Glucose 6 phosphatase gene; Glycogen storage disease 1a; Splicing mutation

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

ARTICLE; CASE REPORT; CHILD; CHINESE; DNA SEQUENCE; EXON; FEMALE; GENE FREQUENCY; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 1; HONG KONG; HUMAN; INFANT; INTRON; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; STOP CODON;

EID: 0031953729     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02674.x     Document Type: Article

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