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SLC34A3 gene
Known as:
NPTIIC
, SLC34A3
, SODIUM/INORGANIC PHOSPHATE COTRANSPORTER, TYPE IIC
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National Institutes of Health
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Related topics
Related topics
1 relation
SLC34A2 gene
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Mutation of SGK3, a novel regulator of renal phosphate transport, causes autosomal dominant hypophosphatemic rickets.
A. Cebeci
,
M. Zou
,
+7 authors
Yufei Shi
Journal of Clinical Endocrinology and Metabolism
2019
Corpus ID: 209313983
CONTEXT Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in the…
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2015
2015
Whole Exome Sequencing Analysis of Patients with Autosomal Recessive Hypophophatemic Rickets Identified Mutations in DMP1, ENPP1 and SLC34A3
Dong Li
,
Y. Tenenbaum‐Rakover
,
+4 authors
M. Levine
2015
Corpus ID: 86141282
2014
2014
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.
Y. Chi
,
Zhen Zhao
,
+9 authors
W. Xia
Bone
2014
Corpus ID: 25506141
2014
2014
Association between Compound Heterozygous Mutations of SLC34A3 and Hypercalciuria
Yuki Abe
,
K. Nagasaki
,
Toru Watanabe
,
T. Abe
,
M. Fukami
Hormone Research in Paediatrics
2014
Corpus ID: 28416596
Background: Mutations in SLC34A3 have been shown to cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH…
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Review
2013
Review
2013
[Updates on rickets and osteomalacia: the role of NaPi-2c/SLC34A3 and hypophosphataemic rickets].
H. Segawa
,
Yuji Shiozaki
,
S. Minoshima
,
K. Miyamoto
Clinical calcium
2013
Corpus ID: 606573
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) , an autosomal recessive disorder first identified in a large…
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Highly Cited
2012
Highly Cited
2012
Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets
S. Beck-Nielsen
,
K. Brixen
,
J. Gram
,
K. Brusgaard
Journal of Human Genetics
2012
Corpus ID: 12354555
This study aimed to identify the underlying genetic mutation in patients with hypophosphatemic rickets (HR). Genomic DNA was…
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