Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia

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Exome sequencing study of 20 patients with high myopia

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Q57156449-F1E71634-2222-4CB8-98BE-B5F92E872EBD

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Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia

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http://www.wikidata.org/entity/Q37519162

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 20 December 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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Identification of novel X-link ...... gmentosa and pathologic myopia

@en

Identification of novel X-link ...... mentosa and pathologic myopia.

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type

Item

label

Identification of novel X-link ...... gmentosa and pathologic myopia

@en

Identification of novel X-link ...... mentosa and pathologic myopia.

@nl

prefLabel

Identification of novel X-link ...... gmentosa and pathologic myopia

@en

Identification of novel X-link ...... mentosa and pathologic myopia.

@nl

P1476

Identification of novel X-link ...... gmentosa and pathologic myopia

@en

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Cristina Parolin

http://www.w3.org/2001/XMLSchema#string

Enzo Di Iorio

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Francesco Parmeggiani

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Giorgio Palù

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Katia De Nadai

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Marzio Chizzolini

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Vanessa Barbaro

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P2860

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

Retinal remodeling in human retinitis pigmentosa

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15

Retinitis pigmentosa

The I-TASSER Suite: protein structure and function prediction.

Refractive errors of retinitis pigmentosa patients

Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.

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srep39179

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39179

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scholarly article

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10.1038/SREP39179

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English

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Stefano Toppo

Enrico Lavezzo

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2016-12-20T00:00:00Z

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27995965

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myopia

An Eadailt

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5171904

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Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia

about

P2860

P2860

Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P478

P50

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P478

P50

P577

P698

P921

P932