A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome

Journal of Dermatological Science

Volumn 65, Issue 1, 2012, Pages 74-76

  Van der Velden, J J A J ^a,b   Jonkman, M F ^c   McLean, W H I ^d   Hamm, H ^e   Steijlen, P M ^a,b   Van Steensel, M A M ^a,b   Van Geel, M ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

^e UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

Author keywords

Acral peeling skin syndrome; Bullous disease; Founder mutation; Genetics; Haplotyping analysis; Mutation

Indexed keywords

GENOMIC DNA;

ACRAL PEELING SKIN SYNDROME; AMINO ACID SUBSTITUTION; AUTOSOMAL RECESSIVE DISORDER; BLISTER; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FOUNDER EFFECT; GENE; GENE AMPLIFICATION; GENE MUTATION; GENEALOGY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GERMANY; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; LETTER; LEUKOCYTE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NETHERLANDS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN EXFOLIATION; TGM5 GENE;

DERMATITIS, EXFOLIATIVE; DNA MUTATIONAL ANALYSIS; EUROPE; FAMILY HEALTH; HAPLOTYPES; HOMOZYGOTE; HUMANS; MODELS, GENETIC; MUTATION; PIGMENTATION DISORDERS; SKIN DISEASES, VESICULOBULLOUS; TRANSGLUTAMINASES;

EID: 84855205879     PISSN: 09231811     EISSN: 1873569X     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2011.10.002     Document Type: Letter

References (9)

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