Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.
about
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencingHereditary interstitial kidney diseaseDissection of a genetic locus influencing renal function in the rat and its concordance with kidney disease loci on human chromosome 1q21Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein.
P2860
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.
description
2006 nî lūn-bûn
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2006年の論文
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name
Medullary cystic kidney diseas ...... es based on haplotype sharing.
@en
Medullary cystic kidney diseas ...... es based on haplotype sharing.
@nl
type
label
Medullary cystic kidney diseas ...... es based on haplotype sharing.
@en
Medullary cystic kidney diseas ...... es based on haplotype sharing.
@nl
prefLabel
Medullary cystic kidney diseas ...... es based on haplotype sharing.
@en
Medullary cystic kidney diseas ...... es based on haplotype sharing.
@nl
P2093
P2860
P50
P1433
P1476
Medullary cystic kidney diseas ...... es based on haplotype sharing.
@en
P2093
Arno Fuchshuber
Franziska Panther
Friedhelm Hildebrandt
Hans C Hennies
Isabella Zalewski
Matthias T F Wolf
Stephanie M Karle
P2860
P2888
P304
P356
10.1007/S00439-006-0176-3
P577
2006-04-26T00:00:00Z
P6179
1046050181