Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

Prenatal Diagnosis

Volumn 19, Issue 10, 1999, Pages 941-946

  Smith, Frances J D ^a,c   McKusick, Victor A ^b   Nielsen, Karl ^a   Pfendner, Ellen ^a   Uitto, Jouni ^a   McLean, W H Irwin ^a,c  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

Genodermatosis; Intermediate filaments; K16; Keratoderma; Mutation; Pachyonychia congenita

Indexed keywords

DNA; KERATIN; MESSENGER RNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHORION VILLUS SAMPLING; CONGENITAL PACHYONYCHIA; CONTROLLED STUDY; DELETION MUTANT; DEVICE; ECTODERMAL DYSPLASIA; EPITHELIUM CELL; FETUS; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; KERATOSIS PALMOPLANTARIS; MALE; MOLECULAR CLONING; MOUTH LESION; NAIL DYSTROPHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PSEUDOGENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ABNORMALITIES, MULTIPLE; ADULT; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; GENETIC SCREENING; HUMANS; KERATINS; KERATODERMA, PALMOPLANTAR; LEUKOPLAKIA, ORAL; MALE; NAILS, MALFORMED; PRENATAL DIAGNOSIS; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 0032848822     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199910)19:10<941::AID-PD663>3.0.CO;2-W     Document Type: Article

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