First characterization of a large deletion of the PDHA1 gene

Molecular Genetics and Metabolism

Volumn 86, Issue 4, 2005, Pages 456-461

  Brivet, Michèle ^a   Moutard, Marie Laure ^b   Zater, Mokhtar ^a   Venet, Lydia ^a   Chenel, Claude ^c   Mine, Manuele ^d   Legrand, A ^a  

^a BICÊTRE HOSPITAL   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c Service des Maladies Infectieuses et Tropicales   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Large genomic deletion; PDHA1; Pyruvate dehydrogenase complex deficiency; Replication slippage

Indexed keywords

DNA; DNA DIRECTED DNA POLYMERASE ALPHA; LACTIC ACID; PDHA1 PROTEIN; PROTEIN DERIVATIVE; PYRUVIC ACID; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CEREBROSPINAL FLUID; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; ENZYME ACTIVITY; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE MAPPING; GENE REPLICATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; INTRON; LACTATE BLOOD LEVEL; LYMPHOCYTE; MOLECULAR WEIGHT; NERVOUS SYSTEM DEVELOPMENT; NEUROLOGIC DISEASE; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN ANALYSIS; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RESTRICTION MAPPING;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INTRONS; POLYMERASE CHAIN REACTION; POLYNESIA; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; REPETITIVE SEQUENCES, NUCLEIC ACID; RESTRICTION MAPPING; SEQUENCE DELETION;

EID: 29144500348     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.08.009     Document Type: Article

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