Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
about
Intra-familial phenotype variability in patients with Jalili syndromeA novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.CNGB3 mutations cause severe rod dysfunction.A new familial case of Jalili syndrome caused by a novel mutation in CNNM4.
P2860
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
description
2013 nî lūn-bûn
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2013年の論文
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2013年論文
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2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
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2013年論文
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2013年论文
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2013年论文
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2013年论文
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name
Molecular genetics of achromat ...... ili syndrome in North America.
@en
type
label
Molecular genetics of achromat ...... ili syndrome in North America.
@en
prefLabel
Molecular genetics of achromat ...... ili syndrome in North America.
@en
P2093
P2860
P50
P1433
P1476
Molecular genetics of achromat ...... lili syndrome in North America
@en
P2093
Coleman Black
Dante Galutira
Gordon J Johnson
Jane Green
P2860
P304
P356
10.3109/13816810.2013.763993
P577
2013-01-30T00:00:00Z