Screening of Mutations in Genes that Predispose to Hereditary Paragangliomas and Pheochromocytomas

Hormone and Metabolic Research, 04/20/2012

Although mutations in SDHC and TMEM127 are less frequent than mutations in SDHB and SDHD, they also have less evident clinical feature indicators. Analyzing SDHAF2 must be restricted to familial extra–adrenal paragangliomas. Multiplex PCR Liquid Chromatography is a sensitive, fast, and inexpensive method for screening large rearrangements, which are infrequent in these syndromes.

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