Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

Molecular Genetics and Metabolism

Volumn 104, Issue 4, 2011, Pages 507-516

  Imbard, A ^a   Boutron, A ^a   Vequaud, C ^a   Zater, M ^a   de Lonlay, P ^b   Ogier de Baulny, H ^c   Barnerias, C ^d   Mine M ^e   Marsac, C ^f   Saudubray, J M ^b   Brivet, M ^a  

^a BICÊTRE HOSPITAL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c AP HP   (France)

^d HÔpital Necker   (France)

^e HÔPITAL LARIBOISIÈRE   (France)

^f UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Contiguous gene deletion syndrome; DLD; Mosaicism; PDHA1; PDHB; Pyruvate dehydrogenase complex

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; GLYCOPROTEIN E1; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE E1ALPHA; PYRUVATE DEHYDROGENASE E1BETA; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CONFORMATION; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE DOSAGE; GENE REARRANGEMENT; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MOSAICISM; NEWBORN; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SCHOOL CHILD; SEQUENCE ANALYSIS; STRUCTURE ANALYSIS;

ADOLESCENT; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CATALYTIC DOMAIN; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; GENE DOSAGE; HUMANS; HYDROGEN BONDING; INDEL MUTATION; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; SEQUENCE ANALYSIS, DNA;

EID: 82255174935     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.08.008     Document Type: Article

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