Literature DB >> 16762963

Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy.

Gianluca Caridi1, Monica Dagnino, Antonella Trivelli, Francesco Emma, Francesco Perfumo, Gian Marco Ghiggeri.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2006        PMID： 16762963     DOI： 10.1093/ndt/gfl277

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN： 0931-0509            Impact factor:   5.992


× No keyword cloud information.
  3 in total

1.  Nephrocystin and ciliary defects not only in the kidney?

Authors:  Christian von Schnakenburg; Manfred Fliegauf; Heymut Omran
Journal:  Pediatr Nephrol       Date:  2007-02-20       Impact factor: 3.714

2.  Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Authors:  Feng Wang; Hui Wang; Han-Fang Tuan; Duy H Nguyen; Vincent Sun; Vafa Keser; Sara J Bowne; Lori S Sullivan; Hongrong Luo; Ling Zhao; Xia Wang; Jacques E Zaneveld; Jason S Salvo; Sorath Siddiqui; Louise Mao; Dianna K Wheaton; David G Birch; Kari E Branham; John R Heckenlively; Cindy Wen; Ken Flagg; Henry Ferreyra; Jacqueline Pei; Ayesha Khan; Huanan Ren; Keqing Wang; Irma Lopez; Raheel Qamar; Juan C Zenteno; Raul Ayala-Ramirez; Beatriz Buentello-Volante; Qing Fu; David A Simpson; Yumei Li; Ruifang Sui; Giuliana Silvestri; Stephen P Daiger; Robert K Koenekoop; Kang Zhang; Rui Chen
Journal:  Hum Genet       Date:  2013-10-24       Impact factor: 4.132

3.  Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

Authors:  Jan Halbritter; Jonathan D Porath; Katrina A Diaz; Daniela A Braun; Stefan Kohl; Moumita Chaki; Susan J Allen; Neveen A Soliman; Friedhelm Hildebrandt; Edgar A Otto
Journal:  Hum Genet       Date:  2013-04-05       Impact factor: 4.132
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.