Article
First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2).
Prenatal diagnosis - 1 Jun 2002
Abou-Sleiman P M, Apessos A, Harper J C, Serhal P, Winston R M L, Delhanty J D A
Abstract excerpt
Neurofibromatosis type 2 (NF2) is a dominantly inherited cancer predisposition syndrome that is caused bymutations in the NF2 gene. We report here the first clinical preimplantation genetic diagnosis (PGD) forNF2. A protocol was developed to simultaneously amplify the mutation and a single nucleotide polymorphism (SNP) located within the gene. The mutation and polymorphism were analysed by simultaneous...
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