Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

Nature Genetics

Volumn 31, Issue 1, 2002, Pages 74-78

  Collin, Gayle B ^a   Marshall, Jan D ^a   Ikeda, Akihiro ^a   So, W Venus ^b   Russell Eggitt, Isabelle ^c   Maffei, Pietro ^d   Beck, Sebastian ^e   Boerkoel, Cornelius F ^f   Sicolo, Nicola ^d   Martin, Mitchell ^b   Nishina, Patsy M ^a   Naggert, Jürgen K ^a  

^a JACKSON LABORATORY   (United States)

^b HOFFMANN LA ROCHE INC   (United States)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d Uiniversita' di Padova   (Italy)

^e NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN ALMS1; UNCLASSIFIED DRUG;

ALSTROM SYNDROME; ALTERNATIVE RNA SPLICING; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC IDENTIFICATION; HUMAN; HUMAN TISSUE; MOUSE; NERVE DEGENERATION; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; NONSENSE MUTATION; OBESITY; PRIORITY JOURNAL; SENSORY DYSFUNCTION; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; DIABETES MELLITUS, TYPE 2; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENE EXPRESSION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE DEGENERATION; NEUROSECRETORY SYSTEMS; OBESITY; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME;

ANIMALIA;

EID: 0036578890     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng867     Document Type: Article

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