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

• Asıl Yazarlar: Sheth Jayesh (Yazar), Shah Sumant (Yazar), Master Dilip (Yazar), Sheth Frenny (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Wolters Kluwer Medknow Publications, 2006-01-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

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...