Article
Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma.
Clinical genetics - 1 Apr 2017
Hoekstra A S, van den Ende B, Julià X P, van Breemen L, Scheurwater K, Tops C M, Malinoc A, Devilee P, Neumann H P H, Bayley J-P
Abstract excerpt
Germline mutations in genes encoding subunits of succinate dehydrogenase (SDH) are associated with hereditary paraganglioma and pheochromocytoma. Although most mutations in SDHB, SDHC and SDHD are intraexonic variants, large germline deletions may represent up to 10% of all variants but are rarely characterized at the DNA sequence level. Additional phenotypic effects resulting from deletions that affect...
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