Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
about
A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasetsEvaluation of 10 AMD Associated Polymorphisms as a Cause of Choroidal Neovascularization in Highly Myopic EyesNext generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.Leveling the Playing Field in Homozygosity Mapping Using Map Distances.Optical coherence tomography findings and successful repair of retina detachment in Knobloch syndrome.Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.
P2860
Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
description
2014 nî lūn-bûn
@nan
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Homozygosity mapping and whole ...... ion causing Knobloch syndrome.
@ast
Homozygosity mapping and whole ...... ion causing Knobloch syndrome.
@en
Homozygosity mapping and whole ...... ion causing Knobloch syndrome.
@nl
type
label
Homozygosity mapping and whole ...... ion causing Knobloch syndrome.
@ast
Homozygosity mapping and whole ...... ion causing Knobloch syndrome.
@en
Homozygosity mapping and whole ...... ion causing Knobloch syndrome.
@nl
prefLabel
Homozygosity mapping and whole ...... ion causing Knobloch syndrome.
@ast
Homozygosity mapping and whole ...... ion causing Knobloch syndrome.
@en
Homozygosity mapping and whole ...... ion causing Knobloch syndrome.
@nl
P2093
P2860
P1433
P1476
Homozygosity mapping and whole ...... ion causing Knobloch syndrome.
@en
P2093
Alireza Haghighi
Amirreza Haghighi
Amit Tiwari
John Neidhardt
Nasrollah Saleh-Gohari
Niloofar Piri
Wolfgang Berger
P2860
P304
P356
10.1371/JOURNAL.PONE.0112747
P407
P577
2014-11-13T00:00:00Z