التفاصيل البيبلوغرافية
| العنوان: |
Novel SLC20A2 mutation in a Japanese pedigree with primary familial brain calcification. |
| المؤلفون: |
Kuroi, Yasuhiro1 (AUTHOR), Akagawa, Hiroyuki1 (AUTHOR) akagawa.hiroyuki@twmu.ac.jp, Yoneyama, Taku1 (AUTHOR), Kikuchi, Asami1 (AUTHOR), Maegawa, Tatsuya1 (AUTHOR), Onda, Hideaki1 (AUTHOR), Kasuya, Hidetoshi1 (AUTHOR) |
| المصدر: |
Journal of the Neurological Sciences. Apr2019, Vol. 399, p183-185. 3p. |
| مصطلحات موضوعية: |
*TRANSIENT ischemic attack, *CALCIFICATION, *BRAIN, *FRAMESHIFT mutation, *GENEALOGY |
| مستخلص: |
Highlights • We present a Japanese family with primary familial brain calcification (PFBC). • Whole-exome sequencing identified a novel frameshift mutation in SLC20A2. • The proband presented with a transient ischemic attack (TIA). • PFBC may be associated with secondary ischemic stroke, including TIA. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
Academic Search Index |
