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Volumn 2, Issue 5, 2002, Pages 445-450
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The molecular basis of mucolipidosis type IV
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Author keywords
[No Author keywords available]
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Indexed keywords
CATION CHANNEL;
GLYCOSAMINOGLYCAN;
LIPID;
MEMBRANE PROTEIN;
MUCOLIPIN 1;
TRANSIENT RECEPTOR POTENTIAL CHANNEL;
UNCLASSIFIED DRUG;
MCOLN1 PROTEIN, HUMAN;
MESSENGER RNA;
TRANSIENT RECEPTOR POTENTIAL CHANNEL M;
ALLELE;
AUTOSOMAL RECESSIVE DISORDER;
CAENORHABDITIS ELEGANS;
CHROMOSOME 19;
CLINICAL FEATURE;
CONTROLLED STUDY;
CORNEA OPACITY;
DEVELOPMENTAL DISORDER;
DISEASE CLASSIFICATION;
DISEASE COURSE;
DISEASE SEVERITY;
ENDOCYTOSIS;
EYE DISEASE;
GENE IDENTIFICATION;
GENE MUTATION;
GENETIC CODE;
GENETIC SCREENING;
HETEROZYGOSITY;
HUMAN;
JEW;
LIPID STORAGE;
LYSOSOME STORAGE DISEASE;
MENTAL DEFICIENCY;
MOLECULAR BIOLOGY;
MOLECULAR CLONING;
MUCOLIPIDOSIS;
MUCOLIPIDOSIS TYPE 4;
MULTIGENE FAMILY;
NEUROLOGIC DISEASE;
NONHUMAN;
ONSET AGE;
PROTEIN DOMAIN;
PROTEIN FUNCTION;
REVIEW;
SEQUENCE HOMOLOGY;
BIOLOGICAL MODEL;
GENETICS;
METABOLISM;
MUTATION;
PATHOLOGY;
CHROMOSOMES, HUMAN, PAIR 19;
CLONING, MOLECULAR;
HUMAN;
MEMBRANE PROTEINS;
MODELS, GENETIC;
MUCOLIPIDOSES;
MUTATION;
RNA, MESSENGER;
SUPPORT, NON-U.S. GOV'T;
SUPPORT, U.S. GOV'T, P.H.S.;
HUMANS;
TRPM CATION CHANNELS;
CAENORHABDITIS;
CAENORHABDITIS ELEGANS;
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EID: 0035990976
PISSN: 15665240
EISSN: None
Source Type: Journal
DOI: 10.2174/1566524023362276 Document Type: Review |
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Times cited : (70)
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References (24)
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