Literature DB >> 16816497

Harlequin ichthyosis.

Sagori Mukhopadhyay1, Ramesh Agarwal.   

Abstract

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Year:  2006        PMID: 16816497     DOI: 10.1007/bf02825830

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


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  1 in total

1.  Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

Authors:  David P Kelsell; Elizabeth E Norgett; Harriet Unsworth; Muy-Teck Teh; Thomas Cullup; Charles A Mein; Patricia J Dopping-Hepenstal; Beverly A Dale; Gianluca Tadini; Philip Fleckman; Karen G Stephens; Virginia P Sybert; Susan B Mallory; Bernard V North; David R Witt; Eli Sprecher; Aileen E M Taylor; Andrew Ilchyshyn; Cameron T Kennedy; Helen Goodyear; Celia Moss; David Paige; John I Harper; Bryan D Young; Irene M Leigh; Robin A J Eady; Edel A O'Toole
Journal:  Am J Hum Genet       Date:  2005-03-08       Impact factor: 11.025

  1 in total

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