Splicing mutation in MVK is a cause of porokeratosis of Mibelli

Archives of Dermatological Research

Volumn 306, Issue 8, 2014, Pages 749-755

  Zeng, Kang ^a   Zhang, Qi Guo ^a   Li, Li ^a   Duan, Yan ^a   Liang, Yan Hua ^a  

^a SOUTHERN MEDICAL UNIVERSITY   (China)

Author keywords

MVK; Porokeratosis; Splicing mutation

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MELANIN; MEVALONATE KINASE; PHOSPHOTRANSFERASE;

ACTINIC POROKERATOSIS; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHINESE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS; DNA SEQUENCE; DNA TEMPLATE; EXON; FEMALE; GENE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFLAMMATORY CELL; INFLAMMATORY INFILTRATE; INTRON; MALE; MEVALONATE KINASE GENE; MIDDLE AGED; ONSET AGE; POROKERATOSIS MIBELLI; SEQUENCE ANALYSIS; SPLICING DEFECT; ADOLESCENT; CHINA; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POROKERATOSIS; PROTEIN PROCESSING; SKIN; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYMORPHISM, GENETIC; POROKERATOSIS; PROTEIN SPLICING; SKIN; YOUNG ADULT;

EID: 84919477807     PISSN: 03403696     EISSN: 1432069X     Source Type: Journal    
DOI: 10.1007/s00403-014-1465-7     Document Type: Article

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