Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
about
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.Achromatopsia caused by novel missense mutations in the CNGA3 gene.The molecular basis of retinal dystrophies in pakistan.
P2860
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
description
2010 nî lūn-bûn
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2010年の論文
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2010年論文
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2010年論文
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2010年論文
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2010年論文
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2010年論文
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2010年论文
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2010年论文
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name
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
@en
type
label
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
@en
prefLabel
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
@en
P2093
P2860
P1433
P1476
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia
@en
P2093
Aftab Ali Shah
Ahmed Sadeque
Alamdar Hussain
Alberta A H J Thiadens
Anneke I den Hollander
Frans P M Cremers
Maleeha Azam
Muhammad Imran Khan
Raheel Qamar
Rob W J Collin
P2860
P304
P577
2010-04-29T00:00:00Z