Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency

Human Genetics

Volumn 124, Issue 2, 2008, Pages 187-193

  Ridout, Cheryl K ^a   Brown, Ruth M ^a   Walter, John H ^b   Brown, Garry K ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PYRUVATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE 1; THIAMINE;

ALLELE; ARTICLE; BODY HEIGHT; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME INACTIVATION; DNA SCREENING; DNA SEQUENCE; FEMALE; FIBROBLAST; GENE EXPRESSION; GENE INACTIVATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC RISK; HEAD CIRCUMFERENCE; HUMAN; IMMUNOHISTOCHEMISTRY; INTRON; MOLECULAR CLONING; MOSAICISM; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; OLIGOHYDRAMNIOS; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SOMATIC MOSAICISM; X CHROMOSOME;

AMINO ACID SEQUENCE; BASE SEQUENCE; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MOLECULAR SEQUENCE DATA; MOSAICISM; MUTATION; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

EID: 50649099434     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0538-0     Document Type: Article

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