Molecular prenatal diagnosis of glycogen storage disease type Ia

Prenatal Diagnosis

Volumn 16, Issue 4, 1996, Pages 333-336

  Qu, Yong ^a   Abdenur, Jose E ^a   Eng, Christine M ^a   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

D glucose 6 phosphatase; Glycogen storage disease type Ia; Prenatal diagnosis

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

AMNION CELL; ARTICLE; CASE REPORT; CHORION VILLUS; CHORION VILLUS SAMPLING; FEMALE; FETUS; FETUS LIVER; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; HUMAN TISSUE; INFANT; LIVER BIOPSY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

BASE SEQUENCE; CELLS, CULTURED; CHORIONIC VILLI SAMPLING; DNA; FEMALE; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; JEWS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PREGNANCY; PREGNANCY OUTCOME; PREGNANCY TRIMESTER, FIRST;

EID: 15844376070     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199604)16:4<333::AID-PD861>3.0.CO;2-G     Document Type: Article

References (9)

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