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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Format: | Book |
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Wolters Kluwer Medknow Publications,
2006-01-01T00:00:00Z.
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A1234.567 |
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Copy 1 | Available |