Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction-Reference-Cited by-同舟云学术

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Published:2015-04-06 Issue:5 Volume:47 Page:528-534
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Akizu Naiara,Cantagrel Vincent,Zaki Maha S,Al-Gazali Lihadh,Wang Xin,Rosti Rasim Ozgur,Dikoglu Esra,Gelot Antoinette Bernabe,Rosti Basak,Vaux Keith K,Scott Eric M,Silhavy Jennifer L,Schroth Jana,Copeland Brett,Schaffer Ashleigh E,Gordts Philip L S M,Esko Jeffrey D,Buschman Matthew D,Field Seth J,Napolitano Gennaro,Abdel-Salam Ghada M,Ozgul R Koksal,Sagıroglu Mahmut Samil,Azam Matloob,Ismail Samira,Aglan Mona,Selim Laila,Mahmoud Iman G,Abdel-Hadi Sawsan,Badawy Amera El,Sadek Abdelrahim A,Mojahedi Faezeh,Kayserili Hulya,Masri Amira,Bastaki Laila,Temtamy Samia,Müller Ulrich,Desguerre Isabelle,Casanova Jean-Laurent,Dursun Ali,Gunel Murat,Gabriel Stacey B,de Lonlay Pascale,Gleeson Joseph G

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3256.pdf

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