文献
J-GLOBAL ID:201702252125229239
整理番号:17A1630170
PTPN14におけるホモ接合性機能欠損変異はリンパ浮腫後鼻孔閉鎖症における両側性後鼻孔閉鎖症と早期小児期発症リンパ浮腫PTPN14変異の症候群を引き起こす【Powered by NICT】
A homozygous loss-of-function mutation in PTPN14 causes a syndrome of bilateral choanal atresia and early infantile-onset lymphedema PTPN14 mutation in lymphedema-choanal atresia
著者 (10件):
Bordbar Arash
(Department of Neonatology, Shahid Akbarabadi Hospital; Iran University of Medical Sciences, Tehran, Iran)
,
Maroofian Reza
(Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon EX2 5DW, UK)
,
Maroofian Reza
(Molecular & Clinical Sciences Research Institute, St. George’s University of London, Cranmer Terrace, London SW17 0RE, UK)
,
Ostergaard Pia
(Molecular & Clinical Sciences Research Institute, St. George’s University of London, Cranmer Terrace, London SW17 0RE, UK)
,
Kashaki Mandana
(Department of Neonatology, Shahid Akbarabadi Hospital; Iran University of Medical Sciences, Tehran, Iran)
,
Nikpour Sara
(Paediatric department of Guilan University of Medical Sciences, Rasht, Iran)
,
Gordon Kristiana
(Molecular & Clinical Sciences Research Institute, St. George’s University of London, Cranmer Terrace, London SW17 0RE, UK)
,
Crosby Andrew
(Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon EX2 5DW, UK)
,
Khosravi Pedram
(Laboratory of Diagnosis Medical Genetic, Shahid Akbarabadi Hospital; Iran university of Medical Sciences, Tehran, Iran)
,
Shojaei Azadeh
(Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran)
資料名:
Meta Gene
(Meta Gene)
巻:
14
ページ:
53-58
発行年:
2017年
JST資料番号:
W3470A
ISSN:
2214-5400
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
オランダ (NLD)
言語:
英語 (EN)