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Article

Prenatal diagnosis of hemoglobinopathies by pyrosequencing: a more sensitive and rapid approach to fetal genotyping.

Hemoglobin - 1 Jan 2012

Timbs Adele T, Rugless Michelle J, Gallienne Alice E, Haywood Anna M, Henderson Shirley J, Old John M

Abstract excerpt

Prenatal diagnosis of the hemoglobinopathies by fetal DNA analysis is currently performed in most countries, either by DNA sequencing, restriction enzyme polymerase chain reaction (RE-PCR) or the amplification refractory mutation system (ARMS). These methods are time consuming and prolong the turnaround time for diagnosis. We here describe a method utilizing pyrosequencing for the prenatal diagnosis of 12 common...

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PMID: 22239406
DOI: 10.3109/03630269.2011.647998

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