Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse

Nature Genetics

Volumn 35, Issue 3, 2003, Pages 264-269

  Bomar, Jamee M ^a   Benke, Paul J ^b   Slattery, Eric L ^a   Puttagunta, Radhika ^a   Taylor, Larry P ^a   Seong, Eunju ^a,c   Nystuen, Arne ^d   Chen, Weidong ^e   Albin, Roger L ^c   Patel, Paresh D ^a,c,f   Kittles, Rick A ^e   Sheffield, Val C ^d   Burmeister, Margit ^a,c,f  

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF IOWA   (United States)

^e HOWARD UNIVERSITY COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; ALPHA TOCOPHEROL TRANSFER PROTEIN; CAYTAXIN; LIGAND; PROTEIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ATAXIA; ATCAY GENE; AUTOSOMAL RECESSIVE INHERITANCE; CAYMAN ATAXIA; CAYMAN ISLANDS; CHROMOSOME 10; CHROMOSOME 19P; COMPARATIVE GENE MAPPING; CONTROLLED STUDY; CRAL TRIO DOMAIN; DYSTONIA; GENE; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN MOTIF; PROTEIN STRUCTURE;

AMINO ACID SEQUENCE; ANIMALS; ATAXIA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; DISEASE MODELS, ANIMAL; DYSTONIA; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE HOMOLOGY, AMINO ACID;

ANIMALIA; INSERTION SEQUENCES;

EID: 0242361309     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1255     Document Type: Article

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