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Volumn 28, Issue 9, 2013, Pages 1112-1116
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A novel c.1135-1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis
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Author keywords
Batten disease; CLN3; juvenile neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis
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Indexed keywords
MESSENGER RNA;
PROTEIN;
PROTEIN CLN3;
UNCLASSIFIED DRUG;
ARTICLE;
ASTIGMATISM;
ATTENTION DEFICIT DISORDER;
CASE REPORT;
CHILD;
COLOR BLINDNESS;
COLOR VISION TEST;
CONTROLLED STUDY;
FAMILY HISTORY;
FEMALE;
GENE DELETION;
GENE MUTATION;
GENETIC SCREENING;
GENETIC VARIABILITY;
HEMANGIOMA;
HUMAN;
HUMAN CELL;
INTELLIGENCE;
NEURONAL CEROID LIPOFUSCINOSIS;
NONSENSE MEDIATED MRNA DECAY;
OPTICAL COHERENCE TOMOGRAPHY;
PRIORITY JOURNAL;
SCHOOL CHILD;
SCOTOMA;
SEBACEOUS NEVUS;
SLEEP WALKING;
STOP CODON;
VISUAL ACUITY;
VISUAL FIELD DEFECT;
VISUAL IMPAIRMENT;
BATTEN DISEASE;
CLN3;
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS;
NEURONAL CEROID LIPOFUSCINOSIS;
CHILD;
FEMALE;
HUMANS;
MEMBRANE GLYCOPROTEINS;
MOLECULAR CHAPERONES;
NEURONAL CEROID-LIPOFUSCINOSES;
SEQUENCE DELETION;
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EID: 84883692214
PISSN: 08830738
EISSN: 17088283
Source Type: Journal
DOI: 10.1177/0883073813494812 Document Type: Article |
Times cited : (9)
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References (14)
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