(Q36499349)

14 August 2017

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis (English)

1 reference

14 August 2017

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9

Chris F Inglehearn

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Derek Nancarrow

3

object named as

Derek Nancarrow

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author name string

Vedam Lakshmi Ramprasad

1

1 reference

14 August 2017

Nagasamy Soumittra

2

1 reference

14 August 2017

Derek Nancarrow

3

1 reference

14 August 2017

Parveen Sen

4

1 reference

14 August 2017

Martin McKibbin

5

1 reference

14 August 2017

Grange A Williams

6

1 reference

14 August 2017

Tharigopala Arokiasamy

7

1 reference

14 August 2017

Praveena Lakshmipathy

8

1 reference

14 August 2017

Govindasamy Kumaramanickavel

10

1 reference

14 August 2017

10 March 2008

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14 August 2017

1 reference

14 August 2017

14

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14 August 2017

481-486

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Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268850

ABCG2 transporter identifies a population of clonogenic human limbal epithelial cells.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268850

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268850

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268850

A novel locus for Leber congenital amaurosis maps to chromosome 6q

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268850

Nonsense-mediated mRNA decay in health and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268850

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268850

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268850

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268850

Large-scale genotyping of complex DNA.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268850

21 September 2018

Identifiers

1 reference

14 August 2017

PubMed publication ID

18334959

1 reference