Prenatal exclusion of lameller ichthyosis based on two novel mutations in tgm 1 gene

Autosomal recessive Lamellar ichthyosis (LI) is a rare condition with the birth frequency of 1:300,000. We describe two sibs of LI born to the nonconsanguineous parents. DNA was isolated from the peripheral blood and CVS were processed for mutation search in transglutaminase gene (TGM 1) has reveale...

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Bibliographic Details
Main Authors: Sheth Jayesh, Shah Sumant, Master Dilip, Sheth Frenny
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2006-01-01
Series:Indian Journal of Dermatology
Subjects:
Online Access:http://www.e-ijd.org/article.asp?issn=0019-5154;year=2006;volume=51;issue=4;spage=281;epage=282;aulast=Sheth