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Volumn 129, Issue 10, 2009, Pages 2512-2515
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A missense mutation in TGM5 causes acral peeling skin syndrome in a tunisian family
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Author keywords
[No Author keywords available]
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Indexed keywords
DNA;
KERATIN;
KERATOHYALIN;
PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;
PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE 3;
PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE 5;
UNCLASSIFIED DRUG;
ACRAL PEELING SKIN SYNDROME;
AMINO TERMINAL SEQUENCE;
CONSANGUINITY;
DISEASE EXACERBATION;
DNA EXTRACTION;
ENVIRONMENTAL TEMPERATURE;
EPIDERMIS;
ERYTHEMA;
EXON;
FRICTION;
GENE SEQUENCE;
GENETIC ANALYSIS;
GENETIC TRAIT;
GRANULAR CELL;
HEREDITY;
HETEROZYGOTE;
HISTOPATHOLOGY;
HOMOZYGOTE;
HUMAN;
HUMIDITY;
INTERCELLULAR SPACE;
LABORATORY TEST;
LETTER;
MISSENSE MUTATION;
PRIORITY JOURNAL;
SKIN ABRASION;
SKIN BIOPSY;
SKIN EXFOLIATION;
STRATUM CORNEUM;
SYNDROME;
THALASSEMIA MINOR;
THREE DIMENSIONAL IMAGING;
TUNISIA;
CHILD, PRESCHOOL;
GENETIC PREDISPOSITION TO DISEASE;
HUMANS;
MALE;
MUTATION, MISSENSE;
SKIN DISEASES;
SYNDROME;
TRANSGLUTAMINASES;
TUNISIA;
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EID: 70349140571
PISSN: 0022202X
EISSN: 15231747
Source Type: Journal
DOI: 10.1038/jid.2009.118 Document Type: Letter |
Times cited : (32)
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References (18)
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