Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

Gergely Ivády,Katalin Koczok,Laszlo Madar,Eva Gombos,Izabella Toth, Klaudia Gyori,István Balogh

JOURNAL OF MEDICAL BIOCHEMISTRY（2015）

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摘要

The updated database of Hungarian mutations not only enables to increase the efficiency of the existing diagnostic approach, but also provides a further refined basis for the introduction of the molecular newborn screening (NBS) program in Hungary.

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关键词

cystic fibrosis,mutational spectrum,newborn screening

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