# Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutations-in-abca12-underlie-the-severe-congenital-skin-disease-harlequin/

## Facts

| Field | Value |
| --- | --- |
| Author Names | David P. Kelsell,Elizabeth E. Norgett,H Unsworth,Muy‐Teck Teh,Thomas Cullup,Charles A. Mein,J. Patricia Dopping-Hepenstal,Adam Dale,Gianluca Tadini,Philip Fleckman,GJ Stephens,P. Virginia Sybert,Benjamin J. Mallory,V. Bernard North,Rochelle Witt,Eli Sprecher,Aileen Taylor,A. Ilchyshyn,T. Cameron Kennedy,Helen Goodyear,Celia Moss,David G. Paige,I. John Harper,Donovan Young,M. Irene Leigh,A.J. Robin Eady,Edel A. O’Toole |
| Citations | 358 |
| DOI | 10.1086/429844 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929707607265/pdf |
| OpenAlex ID | https://openalex.org/W2086527897 |
| PMID | 15756637 |
| Type | article |
| Year | 2005 |

## Paper authors

- [Eli Sprecher](https://scholariq.org/researchers/eli-sprecher/)

## Paper primary topic

- [Skin and Cellular Biology Research](https://scholariq.org/topics/skin-and-cellular-biology-research/)

## Paper topics

- [Skin and Cellular Biology Research](https://scholariq.org/topics/skin-and-cellular-biology-research/)
- [RNA regulation and disease](https://scholariq.org/topics/rna-regulation-and-disease/)
- [Protein Kinase Regulation and GTPase Signaling](https://scholariq.org/topics/protein-kinase-regulation-and-gtpase-signaling/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.