Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease

INTRODUCTION: Autosomal dominant tubulointerstitial kidney disease (ADTKD)-MUC1 is predominantly caused by frameshift mutations owing to a single-base insertion into the variable number tandem repeat (VNTR) region in MUC1. Because of the complexity of the variant hotspot, identification using short-...

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Detalles Bibliográficos
Autores principales: Okada, Eri, Morisada, Naoya, Horinouchi, Tomoko, Fujii, Hideki, Tsuji, Takayuki, Miura, Masayoshi, Katori, Hideyuki, Kitagawa, Masashi, Morozumi, Kunio, Toriyama, Takanobu, Nakamura, Yuki, Nishikomori, Ryuta, Nagai, Sadayuki, Kondo, Atsushi, Aoto, Yuya, Ishiko, Shinya, Rossanti, Rini, Sakakibara, Nana, Nagano, China, Yamamura, Tomohiko, Ishimori, Shingo, Usui, Joichi, Yamagata, Kunihiro, Iijima, Kazumoto, Imasawa, Toshiyuki, Nozu, Kandai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9039432/
https://www.ncbi.nlm.nih.gov/pubmed/35497811
http://dx.doi.org/10.1016/j.ekir.2021.12.037

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