Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

Human Molecular Genetics

Volumn 9, Issue 17, 2000, Pages 2471-2478

  Sun, Mei ^a   Goldin, Ehud ^a   Stahl, Stefanie ^a   Falardeau, John L ^b,c   Kennedy, John C ^b,c   Acierno Jr , James S ^b,c   Bove, Catherine ^c   Kaneski, Christine R ^a   Nagle, James ^a   Bromley, Matthew C ^b,c   Colman, Matthew ^b,c   Schiffmann, Raphael ^a   Slaugenhaupt, Susan A ^b,c  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CATION CHANNEL; MEMBRANE PROTEIN; MEMBRANE RECEPTOR; MUCOLIPIN; UNCLASSIFIED DRUG;

ARTICLE; CELLULAR DISTRIBUTION; CHROMOSOME 19P; CLINICAL ARTICLE; CLINICAL FEATURE; DEGENERATIVE DISEASE; DEVELOPMENTAL DISORDER; DROSOPHILA; EYE MALFORMATION; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; MOLECULAR CLONING; MUCOLIPIDOSIS; MUCOLIPIDOSIS TYPE 4; MULTIGENE FAMILY; NEUROLOGIC DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN LOCALIZATION;

EID: 0034641869     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.17.2471     Document Type: Article

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