(Q37519277)

20 August 2017

Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria (English)

1 reference

hereditary hypophosphatemic rickets with hypercalciuria

20 August 2017

0 references

Michael J Econs

6

0 references

author name string

Shoji Ichikawa

1

1 reference

20 August 2017

Shamir Tuchman

2

1 reference

20 August 2017

Leah R Padgett

3

1 reference

20 August 2017

Amie K Gray

4

1 reference

20 August 2017

H Jorge Baluarte

5

1 reference

20 August 2017

language of work or name

English

0 references

publication date

29 October 2013

1 reference

20 August 2017

1 reference

20 August 2017

59

1 reference

20 August 2017

53-56

1 reference

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

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3903128

Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3903128

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3903128

A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3903128

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3903128

Intron size, abundance, and distribution within untranslated regions of genes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3903128

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3903128

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3903128

Minimal introns are not "junk".

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3903128

Initial sequencing and analysis of the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3903128

Sensitivity of Fibroblast Growth Factor 23 Measurements in Tumor-Induced Osteomalacia

23 August 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24176905

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24176905

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hereditary hypophosphatemic rickets with hypercalciuria

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24176905

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.BONE.2013.10.018

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

24176905

1 reference