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Volumn 282, Issue 50, 2007, Pages 36138-36142
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Gain-of-function mutation in TRPML3 causes the mouse varitint-waddler phenotype
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Author keywords
[No Author keywords available]
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Indexed keywords
CHANNEL PROPERTIES;
SURFACE EXPRESSION;
TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL;
CELL DEATH;
CELL MEMBRANES;
CURRENT DENSITY;
GLYCOSYLATION;
MAMMALS;
GENE EXPRESSION;
PROTEIN TRPML3;
SODIUM;
TRANSIENT RECEPTOR POTENTIAL CHANNEL;
UNCLASSIFIED DRUG;
ALPHA HELIX;
ARTICLE;
CELL DEATH;
CELL SURVIVAL;
CIRCLING BEHAVIOR;
EMBRYO DEATH;
GENE MUTATION;
GLYCOSYLATION;
HEARING LOSS;
HUMAN;
HUMAN CELL;
HUMAN TISSUE;
PHENOTYPE;
PRIORITY JOURNAL;
PROTEIN DOMAIN;
PROTEIN EXPRESSION;
PROTEIN FUNCTION;
VARITINT WADDLER PHENOTYPE;
AMINO ACID SUBSTITUTION;
ANIMALS;
CELL DEATH;
CELL LINE;
GLYCOSYLATION;
HUMANS;
ION TRANSPORT;
MICE;
MUCOLIPIDOSES;
MUTATION, MISSENSE;
PHENOTYPE;
PROTEIN PROCESSING, POST-TRANSLATIONAL;
PROTEIN STRUCTURE, SECONDARY;
PROTEIN STRUCTURE, TERTIARY;
SODIUM;
TRANSIENT RECEPTOR POTENTIAL CHANNELS;
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EID: 37549009562
PISSN: 00219258
EISSN: 1083351X
Source Type: Journal
DOI: 10.1074/jbc.C700190200 Document Type: Article |
Times cited : (94)
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References (9)
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