The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers

European Journal of Human Genetics

Volumn 12, Issue 3, 2004, Pages 220-224

  Haut, Sandrine ^a   de Villemeur, Thierry Billette ^a   Brivet, Michèle ^a   Guiochon Mantel, Anne ^b   Boutron, Audrey ^a   Rustin, Pierre ^c   Legrand, Alain ^a   Slama, Abdelhamid ^a,b  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b BICÊTRE HOSPITAL   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Complex III; Cytochrome b; Growth retardation; Mitochondria; Respiratory chain

Indexed keywords

ASPARTIC ACID; CYTOCHROME B; GLYCINE; MITOCHONDRIAL DNA; SOMATOMEDIN C; UBIQUINOL CYTOCHROME C REDUCTASE;

AMINO ACID SUBSTITUTION; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CHEEK MUCOSA; CLINICAL FEATURE; COMPLEX III DEFICIENCY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE MUTATION; GENE SILENCING; GENETIC CODE; GENETIC CONSERVATION; GROWTH RETARDATION; HAIR ROOT; HETEROZYGOTE; HOMOPLASY; HUMAN; LYMPHOCYTE; MALE; MOTHER; MUTATIONAL ANALYSIS; PATHOGENICITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SEQUENCE ANALYSIS; SIBLING; SKIN FIBROBLAST; SYMPTOMATOLOGY; YEAST;

AMINO ACID SEQUENCE; ASPARTIC ACID; CHILD, PRESCHOOL; CYTOCHROMES B; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX III; FIBROBLASTS; GENOTYPE; GLYCINE; HUMANS; LYMPHOCYTES; MALE; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE;

RAPHIA FRATER;

EID: 16544388634     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201132     Document Type: Article

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