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Description of 5 Novel NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria.

作者信息

Chen Alyssa, Ro Hannah, Mundra Venkat Ram Rakesh, Joseph Kelly, Brenner Dennis, Carpenter Thomas O, Rizk Dana V, Bergwitz Clemens

机构信息

Section Endocrinology, Department of Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.

AI Therapeutics, Guilford, Connecticut, USA.

出版信息

Kidney Int Rep. 2019 May 17;4(8):1179-1186. doi: 10.1016/j.ekir.2019.05.004. eCollection 2019 Aug.

DOI:10.1016/j.ekir.2019.05.004
PMID:31440709
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6698313/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4be1/6698313/6437afacb20d/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4be1/6698313/53df72086855/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4be1/6698313/6437afacb20d/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4be1/6698313/53df72086855/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4be1/6698313/6437afacb20d/gr2.jpg

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Pflugers Arch. 2019 Jan;471(1):137-148. doi: 10.1007/s00424-018-2246-5. Epub 2018 Dec 13.
2
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.遗传性低血磷性佝偻病伴高钙尿症：病理生理学、临床表现、诊断与治疗。
Pflugers Arch. 2019 Jan;471(1):149-163. doi: 10.1007/s00424-018-2184-2. Epub 2018 Aug 14.
3
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
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Calcif Tissue Int. 2024 Feb;114(2):137-146. doi: 10.1007/s00223-023-01156-2. Epub 2023 Nov 19.
4
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4
MutationTaster2: mutation prediction for the deep-sequencing age.MutationTaster2：深度测序时代的突变预测
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