Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family

European Journal of Neurology

Volumn 18, Issue 9, 2011, Pages 1179-1183

  Numasawa, Y ^a   Yamaura, C ^a   Ishihara, S ^a   Shintani, S ^a   Yamazaki, M ^b   Tabunoki, H ^c   Satoh, J I ^c  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b NIPPON MEDICAL SCHOOL   (Japan)

^c MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

Author keywords

Exon 3 skipping; Nasu Hakola disease; PLOSL; Transcriptome; TREM2 mutation

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; TRANSCRIPTOME;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; EXON; FAMILY; FEMALE; GENE; GENE CONTROL; GENE CONVERSION; GENE MUTATION; HUMAN; INTRON; JAPANESE; MALE; MEMBRANOUS LIPODYSTROPHY; MOLECULAR CLONING; NERVE DEGENERATION; PRIORITY JOURNAL; RNA SPLICING; SIBLING; SPLICING DEFECT; TREM 2 GENE; WESTERN BLOTTING;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BLOTTING, WESTERN; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; LIPODYSTROPHY; MALE; MEMBRANE GLYCOPROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POINT MUTATION; RECEPTORS, IMMUNOLOGIC; SUBACUTE SCLEROSING PANENCEPHALITIS;

EID: 80051587279     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2010.03311.x     Document Type: Article

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