Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients

Journal of Investigative Dermatology

Volumn 128, Issue 5, 2008, Pages 1148-1159

  Komatsu, Nahoko ^a,b,c   Saijoh, Kiyofumi ^c   Jayakumar, Arumugam ^d   Clayman, Gary L ^d   Tohyama, Mikiko ^e   Suga, Yasushi ^f   Mizuno, Yuki ^f   Tsukamoto, Katsuhiko ^g   Taniuchi, Katsushige ^h   Takehara, Kazuhiko ^c   Diamandis, Eleftherios P ^a,b  

^a MOUNT SINAI HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c KANAZAWA UNIVERSITY   (Japan)

^d UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^e EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f JUNTENDO UNIVERSITY   (Japan)

^g Yamanashi Prefectural Central Hospital   (Japan)

^h National Maizuru Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

LYMPHOEPITHELIAL KAZAL TYPE RELATED INHIBITOR; PROTEINASE; SERINE PROTEINASE INHIBITOR; TISSUE KALLIKREIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE FUNCTION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HUMAN; MALE; NETHERTON DISEASE; PRIORITY JOURNAL; PROTEIN DOMAIN; SKIN INFECTION; STRATUM CORNEUM;

EID: 42149089353     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5701153     Document Type: Article

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