Identification of sporadic mutations in the helix initiation motif of keratin 6 in two pachyonychia congenita patients: Further evidence for a mutational hot spot

Experimental Dermatology

Volumn 8, Issue 2, 1999, Pages 115-119

  Lin, M T S ^a   Levy, M L ^a   Bowden, P E ^b   Magro, C ^c   Baden, L ^d   Baden, H P ^e   Roop, Dennis R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Genodermatosis; Keratin K6; Mutational hot spot; Pachyonychia congenita

Indexed keywords

INITIATION FACTOR; KERATIN; TRINUCLEOTIDE;

AMINO ACID SUBSTITUTION; ARTICLE; BASE PAIRING; CASE REPORT; CLINICAL FEATURE; DARIER DISEASE; DISEASE ASSOCIATION; DNA SEQUENCE; ECTODERMAL DYSPLASIA; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; GENODERMATOSIS; HETEROZYGOTE; HUMAN; HYPERHIDROSIS; HYPERTROPHY; KERATOSIS PALMOPLANTARIS; LEUKOPLAKIA; NAIL; NAIL DISEASE; PACHYONYCHIA; PEDIGREE;

EID: 0032903219     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0625.1999.tb00357.x     Document Type: Article

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