A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma

British Journal of Dermatology

Volumn 159, Issue 3, 2008, Pages 714-719

  Song, S ^a,b   Shen, C ^a,b   Song, G ^c   Mao, X ^c   Yan, G ^a,b   Wang, X ^a,b   Yan, M ^a,b   Zhong, N ^a,b,d  

^a PEKING UNIVERSITY   (China)

^b PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

^c Hospital of Botou City   (China)

^d NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

Heterogeneous phenotype; Loricrin gene; Nuclear accumulation; Nuclear localization signal

Indexed keywords

GREEN FLUORESCENT PROTEIN; LORICRIN;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN CELL; HYPERKERATOSIS; ICHTHYOSIS; KERATODERMA; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; PALMOPLANTAR KERATODERMA; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CELL LINE; CELL NUCLEUS; CHINA; CODON; CYTOPLASM; FEMALE; FRAMESHIFT MUTATION; GREEN FLUORESCENT PROTEINS; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; PHENOTYPE; TRANSFECTION;

EID: 49749118715     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2008.08657.x     Document Type: Article

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