Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

Clinical Genetics

Volumn 77, Issue 5, 2010, Pages 474-482

  Quintana, E ^a,b   Gort, L ^a,b   Busquets, C ^a   Navarro Sastre, A ^a,b   Lissens, W ^c   Moliner, S ^a,b   Lluch, M ^b   Vilaseca, M A ^d   De Meirleir, L ^c   Ribes, A ^b   Briones, P ^a,b,e  

^a HOSPITAL CLÍNIC   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

^e CSIC   (Spain)

Author keywords

Mosaicism; Mutation analysis; PDH activity; PDHA1 gene; PDHc deficiency

Indexed keywords

GENOMIC DNA; PYRUVATE DEHYDROGENASE A1; PYRUVATE DEHYDROGENASE COMPLEX; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; EXON SKIPPING; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OXIDATION; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RNA DEGRADATION; START CODON;

BLOTTING, WESTERN; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HUMANS; MALE; MUTATION; PATIENT SELECTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

EID: 77953024441     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01313.x     Document Type: Article

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