Functional splicing assay supporting that c.70+5G>A mutation in the MPV17 gene is disease causing

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Navarro Sastre, Aleix ^a   García Silva, Maria Teresa ^b   Martín Hernández, Elena ^b   Lluch, Montserrat ^a   Briones, Paz ^a,c   Ribes, Antonia ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^c CSIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; MITOCHONDRIAL PROTEIN; MPV17 PROTEIN, HUMAN;

CASE REPORT; CELL CULTURE; FATALITY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HEPATIC ENCEPHALOPATHY; HEREDITY; HOMOZYGOTE; HUMAN; INFANT; LIVE BIRTH; MALE; MITOCHONDRIAL DISEASES; MUTATION; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PROCEDURES; RNA SPLICING; ARTICLE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; METHODOLOGY;

CELLS, CULTURED; FATAL OUTCOME; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEPATIC ENCEPHALOPATHY; HEREDITY; HOMOZYGOTE; HUMANS; INFANT; LIVE BIRTH; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PRENATAL DIAGNOSIS; RNA SPLICING;

EID: 84897956333     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9155-x     Document Type: Article

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