A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping
about
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.Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36NephronophthisisNephronophthisis and related syndromesMutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determinationNephronophthisis: disease mechanisms of a ciliopathy.Molecular basis of autosomal recessive diseases among the Palestinian Arabs.Commonalities in Development of Pure Breeds and Population Isolates Revealed in the Genome of the Sardinian Fonni's DogMurine models of polycystic kidney disease: molecular and therapeutic insights.Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Mutant prenyltransferase-like mitochondrial protein (PLMP) and mitochondrial abnormalities in kd/kd miceInversin modulates the cortical actin network during mitosis.Ciliopathies.High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.Loss of inversin decreases transepithelial sodium transport in murine renal cells.Retinal function and morphology in two zebrafish models of oculo-renal syndromes.Early presentation of cystic kidneys in a family with a homozygousINVSmutation
P2860
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P2860
A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping
description
1998 nî lūn-bûn
@nan
1998 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A Bedouin kindred with infanti ...... some 9 by homozygosity mapping
@ast
A Bedouin kindred with infanti ...... some 9 by homozygosity mapping
@en
A Bedouin kindred with infanti ...... some 9 by homozygosity mapping
@nl
type
label
A Bedouin kindred with infanti ...... some 9 by homozygosity mapping
@ast
A Bedouin kindred with infanti ...... some 9 by homozygosity mapping
@en
A Bedouin kindred with infanti ...... some 9 by homozygosity mapping
@nl
prefLabel
A Bedouin kindred with infanti ...... some 9 by homozygosity mapping
@ast
A Bedouin kindred with infanti ...... some 9 by homozygosity mapping
@en
A Bedouin kindred with infanti ...... some 9 by homozygosity mapping
@nl
P2093
P2860
P3181
P356
P1476
A Bedouin kindred with infanti ...... some 9 by homozygosity mapping
@en
P2093
P2860
P304
P3181
P356
10.1086/302108
P407
P577
1998-11-01T00:00:00Z