Development and Validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD

BACKGROUND: Lack of sequencing-validation and complexity of deletion testing hinder genetic diagnosis of SDH-associated paraganglioma/pheochromocytoma. METHODS: We developed sequencing assays and multiplex ligation-dependent probe amplification (MLPA) deletion-detection for SDHB, SDHC and SDHD. Clin...

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Hlavní autoři: Milosevic, Dragana, Lundquist, Patrick, Cradic, Kendall, Vidal-Folch, Noemi, Huynh, ThanhTruc, Pacak, Karel, Grebe, Stefan K.G.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3419008/
https://ncbi.nlm.nih.gov/pubmed/20153743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.clinbiochem.2010.01.016
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