A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 (Q28250958)

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6 November 2019

title

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 (English)

1 reference

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6 November 2019

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2

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6 November 2019

author name string

Hildebrandt F

1

1 reference

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6 November 2019

Rensing C

3

1 reference

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6 November 2019

Nothwang HG

4

1 reference

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6 November 2019

Vollmer M

5

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6 November 2019

Adolphs J

6

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6 November 2019

Hanusch H

7

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6 November 2019

Brandis M

8

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6 November 2019

language of work or name

English

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publication date

1 October 1997

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6 November 2019

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6 November 2019

volume

17

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6 November 2019

issue

2

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6 November 2019

page(s)

149-153

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Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity

6 November 2019

cites work

1 reference

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

21 April 2017

1 reference

The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression

21 April 2017

1 reference

Alternative splicing of human T-cell-specific MAL mRNA and its correlation with the exon/intron organization of the gene

21 April 2017

1 reference

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

21 April 2017

1 reference

The nephronophthisis complex. A clinicopathologic study in children

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-149

7 January 2021

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-149

7 January 2021

Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. APN Study Group

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-149

7 January 2021

Physical mapping of the gene for juvenile nephronophthisis (NPH1) by construction of a complete YAC contig of 7 Mb on chromosome 2q13.

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-149

7 January 2021

A 11 Mb YAC-Based Contig Spanning the Familial Juvenile Nephronophthisis Region (NPH1) Located on Chromosome 2q

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-149

7 January 2021

Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-149

7 January 2021

A conserved AU sequence from the 3' untranslated region of GM-CSF mRNA mediates selective mRNA degradation

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-149

7 January 2021

Forging a path to the nucleus

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-149

7 January 2021

Molecular cloning of the interleukin-1 gene cluster: construction of an integrated YAC/PAC contig and a partial transcriptional map in the region of chromosome 2q13

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-149

7 January 2021

One step 'miniprep' method for the isolation of plasmid DNA.

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-149

7 January 2021

A common language for physical mapping of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-149

7 January 2021

Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes [published e

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-149

7 January 2021

Identifiers

DOI

10.1038/NG1097-149

2 references

Consolidated OpenCitations Corpus – April 2017

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6 November 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017