Mitochondrial succinate dehydrogenase cytochrome b small subunit

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Leube B et al. (2004) SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism.

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Anitha M et al. (2006) GDNF rescues hyperglycemia-induced diabetic enteric neuropathy through activation of the PI3K/Akt pathway.

Pasini B et al. (2008) Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

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Lima J et al. (2007) High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations.

Pigny P et al. (2008) Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.

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Ni Y et al. (2008) Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

Qin Y et al. (2010) Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

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Comino-Méndez I et al. (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

Jackson CB et al. (2014) Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

Alston CL et al. (2015) A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

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