Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature
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SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial DystrophyWhole exome sequence analysis of Peters anomaly.Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.The cytoplasmic domain is essential for transport function of the integral membrane transport protein SLC4A11.Conditionally Immortal Slc4a11-/- Mouse Corneal Endothelial Cell Line Recapitulates Disrupted Glutaminolysis Seen in Slc4a11-/- Mouse Model.Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies.Vps35-deficiency impairs SLC4A11 trafficking and promotes corneal dystrophy.
P2860
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P2860
Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature
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2013 nî lūn-bûn
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2013 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի օգոստոսին հրատարակված գիտական հոդված
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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
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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Mutation analysis of the SLC4A ...... and a review of the literature
@ast
Mutation analysis of the SLC4A ...... and a review of the literature
@en
Mutation analysis of the SLC4A ...... and a review of the literature
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Mutation analysis of the SLC4A ...... and a review of the literature
@ast
Mutation analysis of the SLC4A ...... and a review of the literature
@en
Mutation analysis of the SLC4A ...... and a review of the literature
@nl
prefLabel
Mutation analysis of the SLC4A ...... and a review of the literature
@ast
Mutation analysis of the SLC4A ...... and a review of the literature
@en
Mutation analysis of the SLC4A ...... and a review of the literature
@nl
P2093
P2860
P921
P3181
P1433
P1476
Mutation analysis of the SLC4A ...... and a review of the literature
@en
P2093
Kodaganur SG
Prakash DR
Tontanahal SJ
Veerappa AM
P2860
P304
P3181
P407
P5008
P577
2013-01-01T00:00:00Z
2013-08-02T00:00:00Z