A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma

British Journal of Dermatology

Volumn 150, Issue 4, 2004, Pages 647-651

  He, X H ^a   Zhang, X N ^b   Mao, W ^c   Chen, H P ^d   Xu, L R ^e   Chen, H ^f   He, X L ^c   Le, Y P ^b  

^a INSTITUTE OF BIOCHEMISTRY AND CELL BIOLOGY   (China)

^b NINGBO UNIVERSITY   (China)

^c Lihuili Hospital   (China)

^d NINGBO MUNICIPAL CENTER FOR DISEASE CONTROL AND PREVENTION   (China)

^e Yin Zhou Dist Ctr Dis Contr P   (China)

^f Centre for Molecular Diagnosis   (China)

Author keywords

Epidermolytic palmoplantar keratoderma; Keratin 9; KRT9; Mutation

Indexed keywords

DNA FRAGMENT; KERATIN; KERATIN 9; LEUCINE; TRYPTOPHAN; TYROSINE; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURATION; DNA POLYMORPHISM; DNA SEQUENCE; ELUTION; EPIDERMOLYSIS; EPIDERMOLYTIC PALMOPLANTAR KERATODERMA; EXON; FAMILY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; KERATODERMA; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING;

ALLELES; BASE SEQUENCE; CHINA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; EXONS; FAMILY HEALTH; FEMALE; HUMANS; KERATINS; KERATODERMA, PALMOPLANTAR; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 2342534475     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0007-0963.2004.05865.x     Document Type: Article

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