文献
J-GLOBAL ID:201802216173047310
整理番号:18A0974078
全エクソーム配列決定は,舌後の両側中等度から重度の感音難聴の原因としてTRIOBP病原性変異体を同定する【JST・京大機械翻訳】
Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss
著者 (9件):
Pollak Agnieszka
(Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland)
,
Lechowicz Urszula
(Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland)
,
Pienkowski Victor Abel Murcia
(Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland)
,
Pienkowski Victor Abel Murcia
(Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland)
,
Stawinski Piotr
(Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland)
,
Kosinska Joanna
(Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland)
,
Skarzynski Henryk
(Oto-Rhino-Laryngology Surgery Clinic, Institute of Physiology and Pathology of Hearing, Warsaw/Kajetany, Poland)
,
Oldak Monika
(Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland)
,
Ploski Rafal
(Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland)
資料名:
BMC Medical Genetics (Web)
(BMC Medical Genetics (Web))
巻:
18
号:
1
ページ:
142
発行年:
2017年
JST資料番号:
U7307A
ISSN:
1471-2350
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
イギリス (GBR)
言語:
英語 (EN)