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Volumn 21, Issue 12, 2012, Pages 967-969
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A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome
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Author keywords
Appendage tumor; Brooke Spiegler syndrome; CYLD gene; NEMO protein; Ubiquitination
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Indexed keywords
CYLD PROTEIN;
I KAPPA B KINASE GAMMA;
IMMUNOGLOBULIN ENHANCER BINDING PROTEIN;
UBIQUITIN;
UNCLASSIFIED DRUG;
ADULT;
AUTOSOMAL DOMINANT DISORDER;
BROOKE SYNDROME;
CANCER SURGERY;
CASE REPORT;
ENZYME ACTIVITY;
EXON;
FEMALE;
GENE;
GENE IDENTIFICATION;
GENETIC CODE;
HEAD AND NECK TUMOR;
HETEROZYGOTE;
HISTOLOGY;
HUMAN;
HUNGARY;
IMMUNOHISTOCHEMISTRY;
LETTER;
MALE;
MISSENSE MUTATION;
PAPULE;
PEDIGREE;
PROTEIN DOMAIN;
PROTEIN EXPRESSION;
SEQUENCE ANALYSIS;
UBIQUITINATION;
ADULT;
FAMILY HEALTH;
FEMALE;
HUMANS;
HUNGARY;
MALE;
MIDDLE AGED;
MUTATION, MISSENSE;
NEOPLASTIC SYNDROMES, HEREDITARY;
PEDIGREE;
SKIN NEOPLASMS;
TUMOR SUPPRESSOR PROTEINS;
UBIQUITINATION;
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EID: 84869987239
PISSN: 09066705
EISSN: 16000625
Source Type: Journal
DOI: 10.1111/exd.12040 Document Type: Letter |
Times cited : (6)
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References (27)
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