Article
Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1.
Human reproduction (Oxford, England) - 1 Aug 2006
Altarescu G, Brooks B, Kaplan Y, Eldar-Geva T, Margalioth E J, Levy-Lahad E, Renbaum P
Abstract excerpt
BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the neurofibromin gene. Approximately, 50% of cases are caused by de-novo mutations. Even when the NF1 mutation is known, accuracy of PGD is highly enhanced by simultaneous analysis of linked markers. In a childless couple referred to PGD, the male carried a de-novo mutation, precluding the possibility of typing...
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