Prenatal diagnosis in a chinese family with type Ia glycogen storage disease by PCR-based genetic analysis

Prenatal Diagnosis

Volumn 16, Issue 11, 1996, Pages 1027-1031

  Lee, Wen Jane ^a   Yang, Ching Hwa ^a   Ho, Esther Shih Chu ^a   Shih, Al ^a   Lin, Lih Yuan ^b   Lin, Wen Han ^a  

^a TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL TSING HUA UNIVERSITY   (Taiwan)

Author keywords

Glucose 6 phosphatase gene; Prenatal diagnosis; Type Ia glycogen storage disease

Indexed keywords

ADENINE; GLUCOSE 6 PHOSPHATASE; GUANINE; RESTRICTION ENDONUCLEASE; THYMINE;

AMNION CELL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CELL CULTURE; CHINESE; CHORION VILLUS SAMPLING; DNA DETERMINATION; ENZYME DEFICIENCY; EXON; FETUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GESTATIONAL AGE; GLYCOGEN STORAGE DISEASE TYPE 1; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CHORIONIC VILLI SAMPLING; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA; TAIWAN;

EID: 0029846090     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199611)16:11<1027::AID-PD983>3.0.CO;2-A     Document Type: Article

References (8)

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