Publications:

Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Journal Of Clinical Medicine

Kataoka, Hiroshi H; Fukuoka, Hinata H; Makabe, Shiho S; Yoshida, Rie R; Teraoka, Atsuko A; Ushio, Yusuke Y; Akihisa, Taro T; Manabe, Shun S; Sato, Masayo M; Mitobe, Michihiro M; Tsuchiya, Ken K; Nitta, Kosaku K; Mochizuki, Toshio T

Publication Date: 2020-01-05

Variant appearance in text: PKD1: 679C>T; Gln227X

PubMed Link: 31948117

Variant Present in the following documents:

• jcm-09-00146-s001.pdf

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Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

American Journal Of Human Genetics

Rossetti, S S; Strmecki, L L; Gamble, V V; Burton, S S; Sneddon, V V; Peral, B B; Roy, S S; Bakkaloglu, A A; Komel, R R; Winearls, C G CG; Harris, P C PC

Publication Date: 2001-01

Variant appearance in text: PKD1: Q227X

PubMed Link: 11115377

Variant Present in the following documents:

• Main text

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