Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

Item
http://www.wikidata.org/entity/Q34976923
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome SequencingA novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.C8ORF37 is required for photoreceptor outer segment disc morphogenesis by maintaining outer segment membrane protein homeostasis.C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice.Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.Photoreceptor Guanylate Cyclase () Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca-Dependent Cyclic GMP Synthesis
P2860

Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

Item
http://www.wikidata.org/entity/Q34976923
description
2014 nî lūn-bûn
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2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
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2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
@zh-tw
2014年论文
@wuu
name
Whole exome sequencing reveals ...... cone-rod dystrophy in Israel.
@ast
Whole exome sequencing reveals ...... cone-rod dystrophy in Israel.
@en
Whole exome sequencing reveals ...... cone-rod dystrophy in Israel.
@nl
type
label
Whole exome sequencing reveals ...... cone-rod dystrophy in Israel.
@ast
Whole exome sequencing reveals ...... cone-rod dystrophy in Israel.
@en
Whole exome sequencing reveals ...... cone-rod dystrophy in Israel.
@nl
prefLabel
Whole exome sequencing reveals ...... cone-rod dystrophy in Israel.
@ast
Whole exome sequencing reveals ...... cone-rod dystrophy in Israel.
@en
Whole exome sequencing reveals ...... cone-rod dystrophy in Israel.
@nl
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P2860
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P478
P50
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P5875
P698
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P356
P1433
P1476
Whole exome sequencing reveals ...... cone-rod dystrophy in Israel.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932