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

Details

Serval ID
serval:BIB_AB714DD525E5
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
Journal
British Journal of Dermatology
Author(s)
Thomas A.C., Sinclair C., Mahmud N., Cullup T., Mellerio J.E., Harper J., Dale B.A., Turc-Carel C., Hohl D., McGrath J.A., Vahlquist A., Hellstrom-Pigg M., Ganemo A., Metcalfe K., Mein C.A., O'Toole E.A., Kelsell D.P.
ISSN
0007-0963
Publication state
Published
Issued date
11/2008
Peer-reviewed
Oui
Volume
158
Number
3
Pages
611-613
Language
english
Keywords
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
Pubmed
Web of science
Create date
25/01/2008 16:36
Last modification date
20/08/2019 15:15
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