Article
Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease.
Prenatal diagnosis - 1 Apr 2007
Renbaum P, Brooks B, Kaplan Y, Eldar-Geva T, Margalioth E J, Levy-Lahad E, Altarescu G
Abstract excerpt
OBJECTIVE: The development of a preimplantation genetic diagnosis (PGD) protocol for Alagille syndrome (AGS), a rare autosomal dominant disorder with hepatic, cardiac and ophthalmologic involvement. METHODS: We developed a polar body (PB)-based multiplex fluorescent PCR reaction for a female affected with AGS. The protocol included analysis of the Jagged 1 (JAG1) familial mutation and five closely linked highly...
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