Prenatal diagnosis of glycogen storage disease type Ia by restriction enzyme digestion

Prenatal Diagnosis

Volumn 18, Issue 6, 1998, Pages 629-631

  Trioche, Pascale ^a   Francoual, Jeanne ^b   Audibert, François ^c   Chalas, Jacqueline ^b   Lindenbaum, Albert ^b   Odièvre, Michel ^a   Labrune, Philippe ^a  

^a Service de Pediatrie   (France)

^b Hop Antoine Béclère   (France)

^c INSTITUT DE RECHERCHES INTERNATIONALES SERVIER   (France)

Author keywords

Glycogen storage disease type Ia; Mutations; Prenatal diagnosis

Indexed keywords

CYTOSINE; DNA; GLYCOGEN; RESTRICTION ENDONUCLEASE; THYMINE;

AFRICA; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; DIAGNOSTIC ACCURACY; DNA DETERMINATION; EXON; FEMALE; FETUS; GENE AMPLIFICATION; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 1; HETEROZYGOTE; HUMAN; HUMAN CELL; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CONSANGUINITY; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA MUTATIONAL ANALYSIS; FEMALE; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HOMOZYGOTE; HUMANS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0031747731     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199806)18:6<629::AID-PD315>3.0.CO;2-2     Document Type: Article

References (9)

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