CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 159 B, Issue 8, 2012, Pages 951-957

  Mitsui, Jun ^a   Matsukawa, Takashi ^a   Ishiura, Hiroyuki ^a   Higasa, Koichiro ^b   Yoshimura, Jun ^b   Saito, Taro L ^b   Ahsan, Budrul ^a   Takahashi, Yuji ^a   Goto, Jun ^a   Iwata, Atsushi ^a,b   Niimi, Yuki ^c   Riku, Yuuichi ^c   Goto, Yoji ^c   Mano, Kazuo ^c   Yoshida, Mari ^d   Morishita, Shinichi ^b   Tsuji, Shoji ^a,e  

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

^d AICHI MEDICAL UNIVERSITY   (Japan)

^e NATIONAL INSTITUTE OF GENETICS   (Japan)

Author keywords

CSF1R; Exome sequencing; Hereditary diffuse leukoencephalopathy with spheroids; Molecular diagnosis

Indexed keywords

COLONY STIMULATING FACTOR 1; CYTOKINE RECEPTOR; GENOMIC DNA;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; COLONY STIMULATING FACTOR 1 RECEPTOR GENE; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH SPHEROID; HUMAN; LEUKODYSTROPHY; MALE; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR GENE;

ADULT; AGED; DNA MUTATIONAL ANALYSIS; EXOME; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RECEPTOR, MACROPHAGE COLONY-STIMULATING FACTOR; SEQUENCE ANALYSIS, DNA;

EID: 84869018429     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.32100     Document Type: Article

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