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Cone-rod dystrophy and a frameshift mutation in the PROM1 gene
scientific article
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instance of
scholarly article
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title
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene
(English)
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main subject
cone-rod dystrophy
1 reference
based on heuristic
inferred from title
author name string
Eran Pras
series ordinal
1
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Almogit Abu
series ordinal
2
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Ygal Rotenstreich
series ordinal
3
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Isaac Avni
series ordinal
4
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Orit Reish
series ordinal
5
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Yair Morad
series ordinal
6
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Haike Reznik-Wolf
series ordinal
7
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Elon Pras
series ordinal
8
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language of work or name
English
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publication date
2009
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published in
Molecular Vision
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volume
15
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page(s)
1709-16
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cites work
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice
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PubMed Central
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Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
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A photoreceptor-specific cadherin is essential for the structural integrity of the outer segment and for photoreceptor survival
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7 April 2017
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
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7 April 2017
New insights into the cell biology of hematopoietic progenitors by studying prominin-1 (CD133).
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27 September 2017
Focus on molecules: prominin-1 (CD133).
1 reference
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PubMed Central
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Refractive changes induced by form deprivation in the mouse eye.
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Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease
1 reference
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PubMed Central
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27 September 2017
Clinical subtypes of cone-rod dystrophy
1 reference
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PubMed Central
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27 September 2017
Progressive cone-rod degeneration
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PubMed Central
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27 September 2017
RP cone-rod degeneration
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PubMed Central
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Cone and cone-rod dystrophies
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Cytochalasin D disrupts outer segment disc morphogenesis in situ in rabbit retina.
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Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene
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28 November 2018
Nomenclature of prominin-1 (CD133) splice variants - an update.
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Standard for clinical electroretinography (2004 update).
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An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4.
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Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance
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reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2732717
retrieved
28 November 2018
Effects of brief periods of unrestricted vision on the development of form-deprivation myopia in monkeys
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/19718270
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Cone-Rod Dystrophy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/19718270
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
OpenCitations bibliographic resource ID
2408077
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2408077
PMC publication ID
2732717
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2408077
PubMed publication ID
19718270
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2408077
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