Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome)

Amanda Henry; Ian?P. Hall; James?S. Ware; Kevin?M. O’Shaughnessy; Louise?V. Wain; Mark Glover; Martin Wolley; Martin?D. Tobin; Michael Stowasser; Richard?D. Gordon; Roddy Walsh; Shengxin Xu; Stuart Cook; William?G. Van’t Hoff

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Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome)

机译：检测患有FHHt（家族性高钾血症性高血压或戈登综合症）的家庭的KLHL3和CUL3突变

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《Clinical Science》 |2014年第10期|共页
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Amanda Henry; Ian?P. Hall; James?S. Ware; Kevin?M. O’Shaughnessy; Louise?V. Wain; Mark Glover; Martin Wolley; Martin?D. Tobin; Michael Stowasser; Richard?D. Gordon; Roddy Walsh; Shengxin Xu; Stuart Cook; William?G. Van’t Hoff;
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1. Detection of mutations in KLHL3 and CUL3 in families with fhht (familial hyperkalaemic hypertension or gordon's syndrome) [J] . GloverM., WareJ.S., HenryA., Clinical Science . 2014,第9a10期

机译：在患有fhht（家族性高钾血症性高血压或戈登综合症）的家庭中检测KLHL3和CUL3的突变
2. The CUL3–KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction [J] . Akihito Ohta, Frances-Rose Schumacher, Youcef Mehellou, The biochemical journal . 2013,第1期

机译：在戈登高血压综合征中发生突变的CUL3-KLHL3 E3连接酶复合体与WNK亚型相互作用并泛素化：KLHL3和WNK4的致病突变破坏了相互作用
3. Familial Hyperkalemia and Hypertension (FHHt) and KLHL3: Description of a Family with a New Recessive Mutation (S553L) Compared to a Family with a Dominant Mutation, Q309R, with Analysis of Urinary Sodium Chloride Cotransporter [J] . Kliuk-Ben Bassat Orit, Carmon Vered, Hanukoglu Aaron, Nephron . 2017,第1期

机译：家族性高钾血症和高血压（FHHT）和KLHL3：与具有主导突变的家族的新的隐性突变（S553L）的描述与尿氯化钠分析相比，具有新的隐性突变（S553L）。
4. PHENOTYPICAL OVERLAPPING OF SICK SINUS ANDBRUGADA SYNDROMES IN A FAMILY WITH A NOVELSCN5A MUTATION [C] . FUMIKO YANAGISAWA, YUKEIHIGASHI, HIS A SHIMOJIM International Congress on Electrocardiology . 2005

机译：带有小型突变的家庭中病窦南邦司综合征的表型重叠
5. Marfan Syndrome-Related Mutations Lead to Abnormal Trafficking of TGF-β Family Receptors [D] . Lin, Jing. 2019

机译：Marfan综合征相关的突变导致TGF-β家族受体的异常贩运
6. Detection of mutations in KLHL3 and CUL3 infamilies with FHHt (familial hyperkalaemic hypertension or Gordons syndrome) [O] . Mark Glover, James S. Ware, Amanda Henry, -1

机译：检测KLHL3和CUL3中的突变。FHHt（家族性高钾血症或戈登综合症）的家庭
7. Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome) [O] . Glover, M., Ware, J. S., Henry, A., 2014

机译：检测患有FHHt（家族性高钾血症性高血压或戈登综合症）的家庭的KLHL3和CUL3突变

Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome)

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