SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.

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Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria

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SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.

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2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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2012年论文

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2012年论文

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name

SLC34A3 intronic deletion in a ...... c rickets with hypercalciuria.

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SLC34A3 intronic deletion in a ...... c rickets with hypercalciuria.

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SLC34A3 intronic deletion in a ...... c rickets with hypercalciuria.

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SLC34A3 intronic deletion in a ...... c rickets with hypercalciuria.

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SLC34A3 intronic deletion in a ...... c rickets with hypercalciuria.

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SLC34A3 intronic deletion in a ...... c rickets with hypercalciuria.

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SLC34A3 intronic deletion in a ...... ic rickets with hypercalciuria

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P2093

Akbar Soltani

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Bagher Larijani

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Ehsan Dehghan

http://www.w3.org/2001/XMLSchema#string

Parvin Amiri

http://www.w3.org/2001/XMLSchema#string

Shirin Hasani-Ranjbar

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P2860

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

The HMMTOP transmembrane topology prediction server

Effects of therapy in X-linked hypophosphatemic rickets

Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene.

Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function.

Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.

Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation.

Hypophosphatemia: the common denominator of all rickets.

Nomogram for derivation of renal threshold phosphate concentration.

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89-93

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scholarly article

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10.4274/JCRPE.601

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Azadeh Ebrahim-Habibi

Mahsa M. Amoli

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2012-06-01T00:00:00Z

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225278062

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22672866

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P921

hereditary hypophosphatemic rickets with hypercalciuria

P932

3386779

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SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.

about

P2860

P2860

SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.

description

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P1433

P1476

P2093

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