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Multiplex Ligation-Dependent Probe Amplification Improves the Detection Rate of NKX2.1 Mutations in Patients Affected by Brain-Lung-Thyroid Syndrome.

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Title: Multiplex Ligation-Dependent Probe Amplification Improves the Detection Rate of NKX2.1 Mutations in Patients Affected by Brain-Lung-Thyroid Syndrome.
Authors: Teissier, Raphaël1,2, Guillot, Loïc3, Carré, Aurore1, Morandini, Melina1,2, Stuckens, Chantal4, Ythier, Hubert5, Munnich, Arnold6,7, Szinnai, Gabor8, de Blic, Jacques9, Clement, Annick3,10, Leger, Juliane11,12, Castanet, Mireille1,2, Epaud, Ralph13,14, Polak, Michel1,2
Source: Hormone Research in Paediatrics. May2012, Vol. 77 Issue 3, p146-151.
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        Value: 10.1159/000337214
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      – TitleFull: Multiplex Ligation-Dependent Probe Amplification Improves the Detection Rate of NKX2.1 Mutations in Patients Affected by Brain-Lung-Thyroid Syndrome.
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