First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency

Prenatal Diagnosis

Volumn 20, Issue 13, 2000, Pages 1048-1054

  Ray, Pierre F ^a   Gigarel, Nadine ^a   Bonnefont, Jean Paul ^a   Attié, Tania ^a   Hamamah, Samir ^b   Frydman, Nelly ^b   Vekemans, Michel ^a   Frydman, René ^b   Munnich, Arnold ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL ANTOINE BÉCLÈRE   (France)

Author keywords

OTC; PCR; Preimplantation genetic diagnosis

Indexed keywords

ARTICLE; CLINICAL ARTICLE; EMBRYO; ENZYME DEFICIENCY; FEMALE; GENE LOCATION; HETEROZYGOSITY; HUMAN; MALE; METABOLIC DISORDER; PENETRANCE; POLYMERASE CHAIN REACTION; PREGNANCY; PREIMPLANTATION EMBRYO; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

BASE SEQUENCE; BIOPSY; DNA MUTATIONAL ANALYSIS; EMBRYO; EMBRYO TRANSFER; FEMALE; HETEROZYGOTE; HUMANS; HYPERAMMONEMIA; LINKAGE (GENETICS); MALE; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREIMPLANTATION DIAGNOSIS; SPERM INJECTIONS, INTRACYTOPLASMIC; X CHROMOSOME;

EID: 0034513788     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0223(200012)20:13<1048::AID-PD975>3.0.CO;2-8     Document Type: Article

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