Novel ALOX12B mutation identified in parents following single nucleotide polymorphism microarray testing of banked DNA from a fatal case of congenital ichthyosis

Novel ALOX12B mutation identified in parents following single nucleotide polymorphism microarray testing of banked DNA from a fatal case of congenital ichthyosis

In genetically and phenotypically heterogeneous conditions like ichthyosis, it is clinically not possible to predict mutation in a specific gene. Sequential testing of all the causative genes is time consuming and expensive. In consanguineous families with autosomal recessive genetically heterogeneo...

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Bibliographic Details
Main Authors: Smrithi Salian, Ashish Gupta, Anju Shukla, Katta M Girisha
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2016-01-01
Series:Indian Journal of Dermatology
Subjects:
Autosomal recessive congenital ichthyosis
genetics
ichthyosis
mutation
Online Access:http://www.e-ijd.org/article.asp?issn=0019-5154;year=2016;volume=61;issue=1;spage=122;epage=122;aulast=Salian

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http://www.e-ijd.org/article.asp?issn=0019-5154;year=2016;volume=61;issue=1;spage=122;epage=122;aulast=Salian

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