Netherton syndrome: Disease expression and spectrum of SPINK5 mutations in 21 families

Journal of Investigative Dermatology

Volumn 118, Issue 2, 2002, Pages 352-361

  Bitoun, Emmanuelle ^a   Chavanas, Stéphane ^a,b   Irvine, Alan D ^c   Lonie, Lorne ^a   Bodemer, Christine ^d   Paradisi, Mauro ^e   Hamel Teillac, Dominique ^d   Ansai, Shin Ichi ^f   Mitsuhashi, Yoshihiko ^f   Taïeb, Alain ^g   De Prost, Yves ^d   Zambruno, Giovanna ^e   Harper, John I ^g   Hovnanian, Alain ^a,b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CNRS   (France)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e Immacolata Dermatological Hospital   (France)

^f Yamagata City Hospital   (Japan)

^g HÔPITAL SAINT ANDRÉ   (France)

Author keywords

Atopy; Epidermal differentiation; Erythroderma; Ichthyosis; Serine protease inhibitor

Indexed keywords

MESSENGER RNA; PROTEIN; PROTEIN SPINK5; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; ATOPY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DNA POLYMORPHISM; ERYTHRODERMA; ETHNIC DIFFERENCE; ETHNIC GROUP; EXON; FAMILIAL DISEASE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; INTRON; NETHERTON DISEASE; NONSENSE MUTATION; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; STOP CODON; TRICHORRHEXIS;

EID: 0036174691     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2002.01603.x     Document Type: Article

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