Clinical expression and new SPINK5 splicing defects in netherton syndrome: Unmasking a frequent founder synonymous mutation and unconventional intronic mutations

Journal of Investigative Dermatology

Volumn 132, Issue 3 PART 1, 2012, Pages 575-582

  Lacroix, Matthieu ^a   Lacaze Buzy, Laetitia ^a   Furio, Laetitia ^a,b   Tron, Elodie ^c   Valari, Manthoula ^d   Van Der Wier, Gerda ^e   Bodemer, Christine ^c   Bygum, Anette ^f   Bursztejn, Anne Claire ^f   Gaitanis, George ^g   Paradisi, Mauro ^h   Stratigos, Alexander ⁱ   Weibel, Lisa ^j   Deraison, Céline ^a   Hovnanian, Alain ^a,b,c  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f University Medical Center Groningen ^*  (France)

^g Department of Dermatology   (Greece)

^h LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

ⁱ ANDREAS SYGROS HOSPITAL   (Greece)

^j UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BINDING SITE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; HUMAN CELL; INFANT; INTRON; KERATINOCYTE; LEKT1 GENE; MALE; NETHERTON DISEASE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SPINK5 GENE;

EID: 84857060796     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2011.366     Document Type: Article

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