Prenatal diagnosis of glycogen storage disease type 1a by direct mutation detection

Prenatal Diagnosis

Volumn 16, Issue 2, 1996, Pages 105-108

  Wong, Lee Jun C ^a,b  

^a CHILDREN S HOSPITAL LOS ANGELES   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Glycogen storage disease type 1a; GSD 1a; Mutation detection; Non invasive diagnosis; Prenatal diagnosis

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

ADULT; AMNION FLUID; ARTICLE; CASE REPORT; CONTROLLED STUDY; FEMALE; FETUS; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; MALE; MUTATION; PRENATAL SCREENING; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TECHNIQUE;

AMNIOCENTESIS; AMNIOTIC FLUID; BASE SEQUENCE; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; DNA PROBES; FEMALE; GLUCOSE-6-PHOSPHATE; GLUCOSEPHOSPHATES; GLYCOGEN STORAGE DISEASE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PREGNANCY;

EID: 0030041617     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199602)16:2<105::AID-PD817>3.0.CO;2-K     Document Type: Article

References (11)

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