(Q37375255)

20 August 2017

Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. (English)

1 reference

autosomal dominant hypophosphatemic rickets

20 August 2017

0 references

author name string

M J Econs

1

1 reference

20 August 2017

P T McEnery

2

1 reference

20 August 2017

F Lennon

3

1 reference

20 August 2017

M C Speer

4

1 reference

20 August 2017

language of work or name

English

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publication date

1 December 1997

1 reference

Journal of Clinical Investigation

20 August 2017

1 reference

20 August 2017

100

1 reference

20 August 2017

2653-2657

1 reference

20 August 2017

11

1 reference

Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508467

A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508467

Human stanniocalcin: a possible hormonal regulator of mineral metabolism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508467

Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508467

The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508467

Molecular genetics of human salivary proteins and their polymorphisms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508467

Estimating the power of a proposed linkage study for a complex genetic trait.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508467

Molecular cloning of beta 3 subunit, a third form of the G protein beta-subunit polypeptide

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508467

Complete structure of the human gene encoding neuron-specific enolase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508467

Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508467

Multilocus mapping of the X-linked hypophosphatemic rickets gene

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508467

Hypophosphatemic nonrachitic bone disease: An entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508467

The normal range of serum inorganic phosphorus and its utility as a discriminant in the diagnosis of congenital hypophosphatemia

26 June 2018

1 reference

12 December 2020

Report of the Committee on Methods of Linkage Analysis and Reporting

1 reference

12 December 2020

A microsatellite genetic linkage map of human chromosome 18

1 reference

12 December 2020

Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele

1 reference

12 December 2020

Positional cloning moves from perditional to traditional

1 reference

12 December 2020

Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder

1 reference

12 December 2020

Human stanniocalcin inhibits renal phosphate excretion in the rat

1 reference

12 December 2020

Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI119809

1 reference

20 August 2017

1 reference

20 August 2017

1 reference