A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency

Molecular Genetics and Metabolism

Volumn 89, Issue 1-2, 2006, Pages 106-110

  Miné, Manuèle ^a   Brivet, Michèle ^b   Schiff, Manuel ^c   de Baulny, Hélène Ogier ^c   Chuzhanova, Nadia ^d   Marsac, Cécile ^a  

^a Centre de Recherches Thérapeutiques en Ophtalmologie   (France)

^b BICÊTRE HOSPITAL   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Deletion; Direct repeat CCACTG; E3BP; Leigh syndrome; Non homologous recombination; Pyruvate dehydrogenase (PDH) deficiency; Slipped mispairing

Indexed keywords

PYRUVATE DEHYDROGENASE;

ADOLESCENT; ARTICLE; BRAIN DISEASE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; DNA SEQUENCE; EXON; FEMALE; GENE; GENE DELETION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; INTRON; MOLECULAR GENETICS; PDHX GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; TANDEM REPEAT; WESTERN BLOTTING;

ADOLESCENT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DELETION; HUMANS; MOLECULAR SEQUENCE DATA; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; RECOMBINATION, GENETIC; RNA, MESSENGER;

EID: 33747192062     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.06.002     Document Type: Article

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