A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin. There are six genes currently known to be associated with the disease. Exome sequencing data for two affected individuals with ichthyosis from...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Walsh, D. M., Shah, S. H., Simpson, M. A., Morgan, N. V., Khaliq, S., Trembath, R. C., Mehdi, S. Q., Maher, E. R.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Hindawi Publishing Corporation 2012
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3820470/
https://ncbi.nlm.nih.gov/pubmed/24278723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6064/2012/649090
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