A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease-Reference-Cited by-同舟云学术

A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

Published:2013-03-05 Issue:3 Volume:8 Page:e58286
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Kong Xiao-Fei,Bousfiha Aziz,Rouissi Abdelfettah,Itan Yuval,Abhyankar Avinash,Bryant Vanessa,Okada Satoshi,Ailal Fatima,Bustamante Jacinta,Casanova Jean-Laurent,Hirst Jennifer,Boisson-Dupuis Stéphanie

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference48 articles.

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5. Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47);P Bauer;Neurogenetics,2012

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