CADASIL with a Novel Mutation in Exon 7 of NOTCH3 (C388Y)

CADASIL with a Novel Mutation in Exon 7 of NOTCH3 (C388Y)

フォーマット:

論文

責任表示:

Ishida, Chiho ; Sakajiri, Ken-ichi ; Yoshita, Mitsuhiro ; Joutel, Anne ; Cave-Riant, Florence ; Yamada, Masahito

言語:

英語

出版情報:

The Japanese Society of Internal Medicine = 日本内科学会, 2006-01-01

著者名:

掲載情報:

Internal Medicine

ISSN:

0918-2918

巻:

45

通号:

16

開始ページ:

981

終了ページ:

985

バージョン:

publisher

概要:

金沢大学医薬保健研究域医学系<br />We report a 38-year-old Japanese woman who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with a novel mutation (TGT to TAT) at nucleotide position 1241 (C3 … 88Y) in exon 7 of the Notch3 gene (NOTCH3). Immunostaining of a skin biopsy with a Notch3 monoclonal antibody is a beneficial method for the screening of CADASIL, particularly in the case of rare mutations outside the mutation hotspots in NOTCH3 as shown in this patient. 続きを見る

URL:

http://hdl.handle.net/2297/24036

タイトル・著者・出版者が同じ資料

詳細

主題:	CADASIL; NOTCH3; exon 7; mutation
受理日:	2006-01-01

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