First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex

Prenatal Diagnosis

Volumn 19, Issue 12, 1999, Pages 1160-1164

  Rouillac, C ^a   Aral, B ^b   Fouque, F ^b   Marchant, D ^a   Saudubray, J M ^b   Dumez, Y ^b   Lindsay, G ^d   Abitbol, M ^a   Dufier, J L ^a   Marsac, C ^a,b,c   Benelli, C ^b  

^a Faculte de Medecine Necker   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c CERTO   (France)

^d Maternite de l'Hopital Necker ^*

Author keywords

Antenatal diagnosis; HsPDX1 gene; Lactic acidosis; Leigh syndrome; PDH deficiencies; Protein X PDH

Indexed keywords

COMPLEMENTARY DNA; POLYPEPTIDE; PROTEIN; PROTEIN SUBUNIT; PROTEIN X; PYRUVATE DEHYDROGENASE COMPLEX; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHORION VILLUS; CHROMOSOME 11P; CONTROLLED STUDY; FAMILY; FATHER; FEMALE; FETUS; GENE DELETION; GENE MUTATION; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; INHERITANCE; LACTIC ACIDOSIS; NUCLEOTIDE SEQUENCE; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

BLOTTING, WESTERN; CHORIONIC VILLI SAMPLING; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 11; DIAGNOSIS, DIFFERENTIAL; DNA PRIMERS; DNA, COMPLEMENTARY; FEMALE; GENE DELETION; HAPLOTYPES; HUMANS; INFANT, NEWBORN; LEIGH DISEASE; MUTATION; PEDIGREE; PREGNANCY; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA;

EID: 0032700776     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199912)19:12<1160::AID-PD712>3.0.CO;2-2     Document Type: Article

References (17)

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