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

Hearn, Tom; Renforth, Glenn L; Spalluto, Cosma; Hanley, Neil A; Piper, Karen; Brickwood, Sarah; White, Chris; Connolly, Vincent; Taylor, James F N; Russell-Eggitt, Isabelle; Bonneau, Dominque; Walker, Mark; Wilson, David I

Hearn, Tom; Renforth, Glenn L; Spalluto, Cosma; Hanley, Neil A; Piper, Karen; Brickwood, Sarah; White, Chris; Connolly, Vincent; Taylor, James F N; Russell-Eggitt, Isabelle; Bonneau, Dominque; Walker, Mark; Wilson, David I.

Affiliation

Hearn T; Division of Human Genetics, Southampton University, The Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.

Nat Genet ; 31(1): 79-83, 2002 May.

Article in En | MEDLINE | ID: mdl-11941370

Subject(s)

Cardiomyopathies/genetics; Diabetes Mellitus, Type 2/genetics; Mutation; Retinal Degeneration/genetics; Tandem Repeat Sequences; Amino Acid Sequence; Chromosomes, Human, Pair 11/genetics; Chromosomes, Human, Pair 2/genetics; Female; Genes, Recessive; Humans; In Situ Hybridization, Fluorescence; Male; Molecular Sequence Data; Sequence Homology, Amino Acid; Syndrome; Translocation, Genetic

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Database: MEDLINE Main subject: Retinal Degeneration / Tandem Repeat Sequences / Diabetes Mellitus, Type 2 / Mutation / Cardiomyopathies Type of study: Etiology_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2002 Type: Article Affiliation country: United kingdom

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