Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

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http://www.wikidata.org/entity/Q24563846
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolutionThe gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystinDescription, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.Autofluorescence and High-Resolution OCT Findings Revealed Ciliopathy in Senior-Loken SyndromeNephronophthisis: disease mechanisms of a ciliopathy.Abnormalities in focal adhesion complex formation, regulation, and function in human autosomal recessive polycystic kidney disease epithelial cellsNPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone.Ciliopathies: an expanding disease spectrum.Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromesSenior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl familyThe cilium: a cellular antenna with an influence on obesity risk.Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.Diverse phenotypic expression of NPHP4 mutations in four siblings.
P2860

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

Item
http://www.wikidata.org/entity/Q24563846
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2002 nî lūn-bûn
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2002 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2002 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2002年の論文
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2002年論文
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2002年論文
@zh-hant
2002年論文
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2002年論文
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2002年論文
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2002年论文
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name
Mapping of gene loci for nephr ...... n syndrome, to chromosome 1p36
@ast
Mapping of gene loci for nephr ...... n syndrome, to chromosome 1p36
@en
Mapping of gene loci for nephr ...... n syndrome, to chromosome 1p36
@nl
type
label
Mapping of gene loci for nephr ...... n syndrome, to chromosome 1p36
@ast
Mapping of gene loci for nephr ...... n syndrome, to chromosome 1p36
@en
Mapping of gene loci for nephr ...... n syndrome, to chromosome 1p36
@nl
prefLabel
Mapping of gene loci for nephr ...... n syndrome, to chromosome 1p36
@ast
Mapping of gene loci for nephr ...... n syndrome, to chromosome 1p36
@en
Mapping of gene loci for nephr ...... n syndrome, to chromosome 1p36
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Mapping of gene loci for nephr ...... n syndrome, to chromosome 1p36
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932