Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex

Human Molecular Genetics

Volumn 11, Issue 5, 2002, Pages 477-486

  Roesch, Karin ^a   Curran, Sean P ^a   Tranebjaerg, Lisbeth ^b   Koehler, Carla M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CYSTEINE DERIVATIVE; MEMBRANE PROTEIN; SYNAPSIN I; TRYPTOPHAN DERIVATIVE;

AMINO ACID SUBSTITUTION; ARTICLE; COMPLEX FORMATION; CONTROLLED STUDY; DYSTONIA; FIBROBLAST; GENE EXPRESSION; GENETIC DISORDER; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; MISSENSE MUTATION; MITOCHONDRIAL MEMBRANE; NONHUMAN; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN CROSS LINKING; PROTEIN MOTIF; YEAST;

INSERTION SEQUENCES;

EID: 0036501592     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.5.477     Document Type: Article

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