Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis

Br J Dermatol. 2008 Mar;158(3):611-3. doi: 10.1111/j.1365-2133.2007.08277.x. Epub 2007 Nov 6.

Authors

A C Thomas¹, C Sinclair, N Mahmud, T Cullup, J E Mellerio, J Harper, B A Dale, C Turc-Carel, D Hohl, J A McGrath, A Vahlquist, M Hellstrom-Pigg, A Ganemo, K Metcalfe, C A Mein, E A O'Toole, D P Kelsell

Affiliation

¹ Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary's School of Medicine and Dentistry, Queen Mary, University of London, London, UK.

PMID: 17986308
DOI: 10.1111/j.1365-2133.2007.08277.x

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

ATP-Binding Cassette Transporters / genetics*
DNA Mutational Analysis / methods
Female
Humans
Ichthyosis, Lamellar / diagnosis*
Ichthyosis, Lamellar / genetics
Infant, Newborn
Male
Molecular Sequence Data
Mutation / genetics*
Pregnancy
Prenatal Diagnosis / methods*
Prenatal Diagnosis / standards

Substances

ABCA12 protein, human
ATP-Binding Cassette Transporters