Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases

Journal of Investigative Dermatology

Volumn 133, Issue 2, 2013, Pages 573-576

  Scott, Claire A ^a   Plagnol, Vincent ^b   Nitoiu, Daniela ^a   Bland, Philip J ^a   Blaydon, Diana C ^a   Chronnell, Catherine M ^a   Poon, Daniel S ^a   Bourn, David ^c   Gárdos, László ^d   Császár, Andrea ^d   Tihanyi, Mariann ^e   Rustin, Malcolm ^f   Burrows, Nigel P ^g   Bennett, Chris ^h   Harper, John I ⁱ   Conrad, Bernard ^j   Verma, Ishwar C ^k   Taibjee, Saleem M ^l   Moss, Celia ^l   O'Toole, Edel A ^a   Kelsell, David P ^a   more..

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d Zala County Hospital   (Hungary)

^e Zala Megyei Korhaz   (Hungary)

^f ROYAL FREE HOSPITAL   (United Kingdom)

^g ADDENBROOKE S HOSPITAL   (United Kingdom)

^h Yorkshire Regional Clinical Genetics Service   (United Kingdom)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^k Center of Medical Genetics and Primary Health Care   (Armenia)

^l BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER A1;

CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; COST EFFECTIVENESS ANALYSIS; EPIDERMOLYTIC ICHTHYOSIS; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE LOCUS; GENE MUTATION; HARLEQUIN ICHTHYOSIS; HIGH THROUGHPUT SEQUENCING; HUMAN; ICHTHYOSIS; KERATINOPATHIC ICHTHYOSIS; LAMELLAR ICHTHYOSIS; LETTER; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN DISEASE; X LINKED ICHTHYOSIS;

EID: 84872617905     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2012.332     Document Type: Letter

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