A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene

British Journal of Dermatology

Volumn 153, Issue 3, 2005, Pages 661-663

  Mizuno, Y ^a   Suga, Yasushi ^a   Muramatsu, S ^a   Hasegawa, T ^a   Shimizu, T ^a   Ogawa, H ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Ichthyosis linearis circumflexa; Netherton syndrome; SPINK5

Indexed keywords

DNA; IMMUNOGLOBULIN E ANTIBODY; TRYPSIN;

AMINOACIDURIA; ARTICLE; CASE REPORT; DNA DETERMINATION; DNA SEQUENCE; EGG; FOOT SOLE; GENE; GENE MUTATION; HAND PALM; HETEROZYGOSITY; HUMAN; HYDROLYSIS; ICHTHYOSIS; ICHTHYOSIS LINEARIS CIRCUMFLEXA; INFANT; JAPAN; MALE; MILK; NETHERTON DISEASE; PRIORITY JOURNAL; RADIOALLERGOSORBENT TEST; SPINK5 GENE; STOP CODON; STRATUM CORNEUM;

ASIAN CONTINENTAL ANCESTRY GROUP; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; EXONS; FOOT DERMATOSES; HAND DERMATOSES; HETEROZYGOTE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; INFANT; MALE;

EID: 24344453905     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2005.06770.x     Document Type: Article

References (8)

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8. Bitoun E, Micheloni A, Lamant L et al. LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum Mol Genet 2003; 12:2417-30.