换一批
换一批Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
作者：
Wiessner, Manuela [1]
;
Roos, Andreas [2]
;
Munn, Christopher J. [3]
;
Viswanathan, Ranjith [4]
;
Whyte, Tamieka [5]
;
Cox, Dan [6]
;
Schoser, Benedikt [7]
;
Sewry, Caroline [8]
;
Roper, Helen [9]
;
Phadke, Rahul [10]
;
Bettolo, Chiara Marini [11]
;
Barresi, Rita [12]
;
Charlton, Richard [13]
;
Bonnemann, Carsten G. [14]
;
Neto, Osorio Abath ;
Reed, Umbertina C. ;
Zanoteli, Edmar ;
Moreno, Cristiane Araujo Martins ;
Ertl-Wagner, Birgit ;
Stucka, Rolf ;
De Goede, Christian ;
da Silva, Tamiris Borges ;
Hathazi, Denisa ;
Dell'Aica, Margherita ;
Zahedi, Rene P. ;
Thiele, Simone ;
Muller, Juliane ;
Kingston, Helen ;
Mueller, Susanna ;
Curtis, Elizabeth ;
Walter, Maggie C. ;
Strom, Tim M. ;
Straub, Volker ;
Bushby, Kate ;
Muntoni, Francesco ;
Swan, Laura E. ;
Lochmuller, Hanns ;
Senderek, Jan
作者单位：
Univ Liverpool, Inst Translat Med, Dept Cellular & Mol Physiol, Crown St, Liverpool L69 3BX
[1]
UCL Great Ormond St Inst Child Hlth, London WC1N 1EH, England
[2]
Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Manchester Ctr Genom Med, Oxford Rd
[3]
Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany
[4]
Ludwig Maximilians Univ Munchen, Dept Neurol, Friedrich Baur Inst, D-80336 Munich, Germany
[5]
Univ Hosp Birmingham NHS Fdn Trust, Queen Elizabeth Hosp Birmingham, Dept Cellular Pathol
[6]
Newcastle Univ, Inst Med Genet, MRC Ctr Neuromuscular Dis, John Walton Muscular Dystrophy Res Ctr
[7]
Heart England NHS Fdn Trust, Birmingham Heartlands Hosp, Birmingham B9 5SS, W Midlands, England
[8]
NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, Neurogenet Branch, NIH, Bethesda, MD
[9]
Leibniz Inst Analyt Wissensch ISAS, D-44227 Dortmund, Germany
[10]
Ludwig Maximilians Univ Munchen, Inst Pathol, D-80337 Munich, Germany
[11]
Ludwig Maximilians Univ Munchen, Inst Clin Radiol, D-81377 Munich, Germany
[12]
Lancashire Teaching Hosp NHS Fdn Trust, Royal Preston Hosp, Dept Paediat Neurol, Preston PR2 9HT
[13]
Univ Sao Paulo, Fac Med, Dept Neurol, BR-01246903 Sao Paulo, Brazil
[14]
发布时间
2017-10-25
- 浏览0
The American Journal of Human Genetics
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
