CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. (Q54479618)

30 May 2018

title

CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. (English)

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30 May 2018

author

Atsushi Iwata

10

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30 May 2018

author name string

Jun Mitsui

1

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30 May 2018

Takashi Matsukawa

2

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30 May 2018

Hiroyuki Ishiura

3

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30 May 2018

Koichiro Higasa

4

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30 May 2018

Jun Yoshimura

5

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30 May 2018

Taro L Saito

6

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30 May 2018

Budrul Ahsan

7

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Yuji Takahashi

8

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30 May 2018

Jun Goto

9

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30 May 2018

Yuki Niimi

11

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30 May 2018

Yuuichi Riku

12

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Yoji Goto

13

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30 May 2018

Kazuo Mano

14

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30 May 2018

Mari Yoshida

15

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30 May 2018

Shinichi Morishita

16

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30 May 2018

Shoji Tsuji

17

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publication date

4 October 2012

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30 May 2018

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

published in

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volume

159B

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30 May 2018

issue

8

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30 May 2018

page(s)

951-957

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30 May 2018

A method and server for predicting damaging missense mutations

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Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

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C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

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21 January 2018

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Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

21 January 2018

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Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids

21 January 2018

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A stop-codon mutation in the BRI gene associated with familial British dementia

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21 January 2018

Identifiers

DOI

10.1002/AJMG.B.32100

1 reference

30 May 2018

PubMed ID

23038421

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30 May 2018