Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
about
Role of RDS and Rhodopsin in Cngb1-Related Retinal Degeneration.Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
P2860
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
description
2015 nî lūn-bûn
@nan
2015 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մարտին հրատարակված գիտական հոդված
@hy
2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Homozygosity mapping and targe ...... ase in families from pakistan.
@ast
Homozygosity mapping and targe ...... ase in families from pakistan.
@en
type
label
Homozygosity mapping and targe ...... ase in families from pakistan.
@ast
Homozygosity mapping and targe ...... ase in families from pakistan.
@en
altLabel
Homozygosity mapping and targe ...... ease in families from pakistan
@en
prefLabel
Homozygosity mapping and targe ...... ase in families from pakistan.
@ast
Homozygosity mapping and targe ...... ase in families from pakistan.
@en
P2093
P2860
P50
P1433
P1476
Homozygosity mapping and targe ...... ease in families from pakistan
@en
P2093
Alamdar Hussain
Anneke I den Hollander
Frans P M Cremers
Humaira Ayub
Liaqat Ali
Maleeha Azam
Maleeha Maria
Muhammad Imran Khan
Nadia Khalida Waheed
Raheel Qamar
P2860
P304
P356
10.1371/JOURNAL.PONE.0119806
P407
P577
2015-03-16T00:00:00Z