A novel succinate dehydrogenase type B mutation in an Iranian family. Its genetic and clinical evaluation
نویسندگان
چکیده
منابع مشابه
Identification of a Novel CLCNKB Mutation in an Iranian Family with Bartter Syndrome Type 3.
Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene. We enroll...
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Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis
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متن کاملA novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.
We report a family with malignant sympathetic paragangliomas (PGL) exhibiting a new type of germline mutation in the succinate dehydrogenase subunit B (SDHB) gene. Two affected brothers, presenting with symptoms at the ages of 25 and 52 yr, suffered from malignant abdominal extraadrenal sympathetic PGL. They died of their disease at ages 43 and 61 yr. Their mother had the same history of signs ...
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ژورنال
عنوان ژورنال: HORMONES
سال: 2002
ISSN: 1109-3099
DOI: 10.14310/horm.2002.1500