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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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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2010
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| Fag: | |
| Online adgang: | 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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