Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

Nature Genetics

Volumn 31, Issue 1, 2002, Pages 79-83

  Hearn, Tom ^a   Renforth, Glenn L ^a   Spalluto, Cosma ^a   Hanley, Neil A ^a   Piper, Karen ^a   Brickwood, Sarah ^a   White, Chris ^b   Connolly, Vincent ^c   Taylor, James F N ^d   Russell Eggitt, Isabelle ^d   Bonneau, Dominique ^e   Walker, Mark ^b   Wilson, David I ^a  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c JAMES COOK UNIVERSITY HOSPITAL   (United Kingdom)

^d Hospital for Sick Children   (United Kingdom)

^e ANGERS UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GENE PRODUCT; PROTEIN ALMS1; UNCLASSIFIED DRUG;

ALSTROM SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE DISRUPTION; GENE FUNCTION; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GENETIC TRANSCRIPTION; HUMAN; HUMAN TISSUE; KARYOTYPE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; STOP CODON; TANDEM REPEAT;

AMINO ACID SEQUENCE; CARDIOMYOPATHIES; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 2; DIABETES MELLITUS, TYPE 2; FEMALE; GENES, RECESSIVE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; RETINAL DEGENERATION; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; TANDEM REPEAT SEQUENCES; TRANSLOCATION, GENETIC;

EID: 18544391142     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng874     Document Type: Article

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