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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Main Authors: Sheth Jayesh (Author), Shah Sumant (Author), Master Dilip (Author), Sheth Frenny (Author)
Format: Book
Published: Wolters Kluwer Medknow Publications, 2006-01-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
Copy 1 Available