Behr syndrome with homozygous C19ORF12 mutation-Reference-Cited by-同舟云学术

Behr syndrome with homozygous C19ORF12 mutation

Published:2015-10 Issue:1-2 Volume:357 Page:115-118
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Kleffner Ilka,Wessling Caroline,Gess Burkhard,Korsukewitz Catharina,Allkemper Thomas,Schirmacher Anja,Young Peter,Senderek Jan,Husstedt Ingo W.

Funder

Gilead Sciences

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference24 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews;Anikster;Am. J. Hum. Genet.,2001

3. Die komplizierte, hereditary-familiäre Optikusatrophie des Kindesalters: ein bisher nicht beschriebener Symptomenkomplex;Behr;Klin. Monatsbl. Augenheilkd.,1909

4. Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier;Bonifert;Brain,2014

5. Early-onset Behr syndrome due to compound heterozygous mutations in OPA1;Bonneau;Brain,2014

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