Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

American Journal of Human Genetics

Volumn 79, Issue 5, 2006, Pages 869-877

  Smeitink, Jan A M ^a   Elpeleg, Orly ^b   Antonicka, Hana ^c   Diepstra, Heleen ^a   Saada, Ann ^b   Smits, Paulien ^a   Sasarman, Florin ^c   Vriend, Gert ^a   Jacob Hirsch, Jasmine ^d   Shaag, Avraham ^b   Rechavi, Gideon ^d   Welling, Brigitte ^e   Horst, Jürgen ^e   Rodenburg, Richard J ^a   Van Den Heuvel, Bert ^a   Shoubridge, Eric A ^c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c MCGILL UNIVERSITY   (Canada)

^d SHEBA MEDICAL CENTER   (Israel)

^e UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; ELONGATION FACTOR; MITOCHONDRIAL DNA; TRANSFER RNA;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ACTIVITY; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; IMMUNOBLOTTING; MALE; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL ENCEPHALOMYOPATHY; MITOCHONDRION; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA TRANSLATION;

PROKARYOTA;

EID: 33751085653     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/508434     Document Type: Article

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