Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein.
about
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney DiseaseBiallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition
P2860
Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein.
description
2017 nî lūn-bûn
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2017年の論文
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name
Analysis of an ADTKD family wi ...... atures of mutant MUC1 protein.
@en
Analysis of an ADTKD family wi ...... atures of mutant MUC1 protein.
@nl
type
label
Analysis of an ADTKD family wi ...... atures of mutant MUC1 protein.
@en
Analysis of an ADTKD family wi ...... atures of mutant MUC1 protein.
@nl
prefLabel
Analysis of an ADTKD family wi ...... atures of mutant MUC1 protein.
@en
Analysis of an ADTKD family wi ...... atures of mutant MUC1 protein.
@nl
P2093
P2860
P356
P1476
Analysis of an ADTKD family wi ...... atures of mutant MUC1 protein.
@en
P2093
Akihiro Nakaya
Atsuko Imai
Jun-Ya Kaimori
Kaori Kobayashi
Kazuto Kato
Naotsugu Ichimaru
Ryoichi Imamura
Satoko Yamamoto
Shiro Takahara
Tomoko Namba
P2860
P304
P356
10.1093/NDT/GFX083
P407
P577
2017-06-01T00:00:00Z