New Splicing-site Mutations in the SURF1 Gene in Leigh Syndrome Patients

Journal of Biological Chemistry

Volumn 276, Issue 18, 2001, Pages 15326-15329

  Péquignot, Marie O ^a   Desguerre, Isabelle ^b   Dey, Runu ^c   Tartari, Marzia ^d   Zeviani, Massimo ^d   Agostino, Alessandro ^d   Benelli, Chantal ^e   Fouque, Françoise ^e   Prip Buus, Carina ^c   Marchant, Dominique ^a   Abitbol, Marc ^a   Marsac, Cécile ^a,c  

^a Institut Necker   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c CNRS   (France)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENES; MUTAGENESIS; NEUROLOGY; PATIENT MONITORING;

BIOGENESIS;

BIOCHEMISTRY;

CYTOCHROME C OXIDASE; PROTEIN; PROTEIN SURF1; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; MITOCHONDRIAL PROTEIN; PRIMER DNA; SURF 1 PROTEIN; SURF-1 PROTEIN;

ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; LEIGH DISEASE; MALE; PRIORITY JOURNAL; RESPIRATORY CHAIN; RNA SPLICING; SURF1 GENE; CASE REPORT; GENETICS; HETEROZYGOTE; HOMOZYGOTE; INFANT; MUTATION; NUCLEOTIDE SEQUENCE;

BASE SEQUENCE; DNA PRIMERS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; LEIGH DISEASE; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION; PROTEINS; RNA SPLICING;

EID: 0242679544     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M100388200     Document Type: Article

References (13)

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