Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form

Molecular Genetics and Metabolism

Volumn 94, Issue 2, 2008, Pages 234-239

  Navarro Sastre, Aleix ^a   Martín Hernández, Elena ^b   Campos, Yolanda ^b   Quintana, Ester ^a   Medina, Enrique ^b   de las Heras, Rogelio Simón ^b   Lluch, Montserrat ^a   Muñoz, Alberto ^b   Hoyo, Pilar del ^b   Martín, Rebeca ^b   Gort, Laura ^a   Briones, Paz ^a,c   Ribes, Antonia ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^c CSIC   (Spain)

Author keywords

Hepatocerebral; Leukodystrophy; MPV17 gene; mtDNA depletion; Splicing

Indexed keywords

MITOCHONDRIAL DNA; PROTEIN; PROTEIN MPV 17;

ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HOMOZYGOTE; HUMAN; LEUKODYSTROPHY; LIVER DISEASE; LIVER HOMOGENATE; MITOCHONDRIAL RESPIRATION; POLYNEUROPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; WESTERN BLOTTING;

ALTERNATIVE SPLICING; EXONS; HUMANS; INFANT, NEWBORN; INTRONS; LEUKODYSTROPHY, GLOBOID CELL; LIVER DISEASES; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MUTATION;

EID: 43449102160     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.01.012     Document Type: Article

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