Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients

American Journal of Medical Genetics

Volumn 86, Issue 4, 1999, Pages 376-379

  Moog, U ^a,c   De Die Smulders, C E M ^b   Scheffer, H ^a   Van Der Vlies, P ^b   Henquet, C J M ^a   Jonkman, M F ^b  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c University Hospital ^*  (Netherlands)

Author keywords

Dermatologic disorder; Epidermolysis bullosa simplex with mottled pigmentation; Keratin 5

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CYTOSKELETON; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENE MUTATION; HUMAN; KERATINOCYTE; PRIORITY JOURNAL; SKIN PIGMENTATION;

ADULT; BASE SEQUENCE; CHILD; DNA; DNA MUTATIONAL ANALYSIS; EPIDERMIS; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENES, DOMINANT; HUMANS; HYPERPIGMENTATION; INFANT; KERATINS; MALE; MICROSCOPY, ELECTRON; POINT MUTATION;

EID: 0032843899     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991008)86:4<376::AID-AJMG12>3.0.CO;2-W     Document Type: Article

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