(Q36087371)

12 August 2017

Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family (English)

1 reference

12 August 2017

1 reference

1 reference

7

Javed Akram

1 reference

12 August 2017

10

Sheikh Riazuddin

1 reference

12 August 2017

Amber Shahzadi

1

1 reference

12 August 2017

S Amer Riazuddin

2

1 reference

12 August 2017

Shahbaz Ali

3

1 reference

12 August 2017

David Li

4

1 reference

12 August 2017

Shaheen N Khan

5

1 reference

12 August 2017

Tayyab Husnain

6

1 reference

12 August 2017

Paul A Sieving

8

1 reference

12 August 2017

J Fielding Hejtmancik

9

1 reference

12 August 2017

language of work or name

English

0 references

publication date

10 June 2010

1 reference

British Journal of Ophthalmology

12 August 2017

1 reference

12 August 2017

94

1 reference

12 August 2017

8

1 reference

12 August 2017

1094-1099

1 reference

A new locus for autosomal recessive congenital cataract identified in a Pakistani family

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393880

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393880

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393880

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393880

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393880

Retinitis pigmentosa: genes, proteins and prospects

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393880

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393880

Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393880

Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393880

Easy calculations of lod scores and genetic risks on small computers

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393880

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393880

Molecular diagnostics for retinitis pigmentosa

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393880

Avoiding recomputation in linkage analysis.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393880

23 September 2018

Identifiers

DOI

10.1136/BJO.2009.171892

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

20538656

1 reference