A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

American Journal of Human Genetics

Volumn 78, Issue 2, 2006, Pages 345-349

  Quinzii, Catarina ^a   Naini, Ali ^a   Salviati, Leonardo ^b   Trevisson, Eva ^b   Navas, Plácido ^c   DiMauro, Salvatore ^a   Hirano, Michio ^a  

^a Columbia University College of Physicians and Surgeons ^*  (United States)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSIDAD PABLO DE OLAVIDE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

4 HYDROXYBENZOIC ACID POLYPRENYL TRANSFERASE; AMINO ACID; NUCLEOTIDE; RADIOISOTOPE; TRANSFERASE; TYROSINE; UBIDECARENONE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; BIOSYNTHESIS; BRAIN DISEASE; CASE REPORT; CELL MEMBRANE; CEREBELLUM ATROPHY; CONSANGUINEOUS MARRIAGE; COQ2 GENE; ELECTRON TRANSPORT; ENZYME DEFICIENCY; ENZYME SYNTHESIS; FIBROBLAST; GENE MUTATION; GENETIC TRAIT; HOMOZYGOTE; HUMAN; KIDNEY DYSFUNCTION; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYOPATHY; PHENOTYPE; PRESCHOOL CHILD; PRIMARY UBIQUINONE DEFICIENCY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTON TRANSPORT; SIBLING;

ATAXIA;

EID: 31544480133     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/500092     Document Type: Article

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