Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

British Journal of Dermatology

Volumn 162, Issue 6, 2010, Pages 1384-1387

  Covaciu, C ^a   Castori, M ^b   De Luca, N ^a   Ghirri, P ^c   Nannipieri, A ^d   Ragone, G ^a   Zambruno, G ^a   Castiglia, D ^a  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY OF PISA   (Italy)

^d UO Dermatology   (Italy)

Author keywords

Bullous congenital ichthyosiform erythroderma; Consanguinity; Cryptic splicing; Epidermolytic hyperkeratosis; Mutation detection; Recurrence risk

Indexed keywords

ANTIBIOTIC AGENT; CYTOKERATIN 1; GENOMIC DNA;

ACANTHOSIS; AMINO ACID SUBSTITUTION; ARTICLE; BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; CELL CULTURE; CONTROLLED STUDY; CYTOLYSIS; DEHYDRATION; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; HYPERNATREMIA; KERATINOCYTE; MICROSCOPY; MUTATIONAL ANALYSIS; ORTHOHYPERKERATOSIS; PAPILLOMATOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SPLICING; SEPSIS; SKIN BIOPSY; TRANSMISSION ELECTRON MICROSCOPY;

DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; HUMANS; HYPERKERATOSIS, EPIDERMOLYTIC; INFANT, NEWBORN; KERATIN-10; MUTATION; RNA SPLICE SITES;

EID: 77952712242     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2010.09665.x     Document Type: Article

References (11)

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