A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1

Experimental Dermatology

Volumn 8, Issue 2, 1999, Pages 109-114

  Smith, E J D ^a   McKenna, K E ^b   Irvine, A D ^c   Bingham, E A ^c   Coleman, C M ^a   Uitto, J ^a   McLean, W H Irwin ^a,d  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b CRAIGAVON AREA HOSPITAL   (United Kingdom)

^c ROYAL VICTORIA HOSPITAL   (United Kingdom)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

Genodermatosis; Intermediate filaments; K6; Keratin; Pachyonychia

Indexed keywords

KERATIN;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLINICAL FEATURE; DARIER DISEASE; ECTODERMAL DYSPLASIA; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENODERMATOSIS; HUMAN; KERATOSIS PALMOPLANTARIS; LEUKOPLAKIA; MISSENSE MUTATION; NAIL DISEASE; NAIL DYSTROPHY; PACHYONYCHIA; PEDIGREE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PROTEIN EXPRESSION; PSEUDOGENE; RESTRICTION MAPPING;

EID: 0344286480     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0625.1999.tb00356.x     Document Type: Article

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