Clinical utility gene card for: Choroideremia

被引:33
作者
Moosajee, Mariya L. [1 ,2 ]
Ramsden, Simon C. [3 ]
Black, Graeme C. M. [3 ]
Seabra, Miguel C. [4 ,5 ]
Webster, Andrew R. [1 ,2 ]
机构
[1] UCL, Inst Ophthalmol, London EC1V 9EL, England
[2] Moorfields Eye Hosp, NHS Fdn Trust, London, England
[3] Cent Manchester Univ Hosp NHS Fdn Trust, Manchester, Lancs, England
[4] Univ London Imperial Coll Sci Technol & Med, Dept Mol Med, London, England
[5] Univ Nova Lisboa, CEDOC, Fac Ciencia Med, P-1200 Lisbon, Portugal
关键词
RAB ESCORT PROTEIN-1; MUTATIONS; VARIABILITY; CLONING; REP1; CHM;
D O I
10.1038/ejhg.2013.183
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
[No abstract available]
引用
收藏
页码:e1 / e4
页数:4
相关论文
共 50 条
[21]   Clinical utility gene card for: poikiloderma with neutropenia [J].
Larizza, Lidia ;
Negri, Gloria ;
Colombo, Elisa Adele ;
Volpi, Ludovica ;
Sznajer, Yves .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (10) :1185-1185
[22]   Clinical utility gene card for: Biotinidase deficiency [J].
Kuery, Sebastien ;
Ramaekers, Vincent ;
Bezieau, Stephane ;
Wolf, Barry .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (05) :4-4
[23]   Clinical utility gene card for: Menkes disease [J].
Tuemer, Zeynep ;
Klomp, Leo .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (10) :1108-1110
[24]   Clinical utility gene card for: blue cone monochromatism [J].
Kohl, Susanne ;
Hamel, Christian P. .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (06) :732-732
[25]   Clinical utility gene card for: Familial Hypobetalipoproteinaemia (APOB) [J].
Burnett, John R. ;
Bell, Damon A. ;
Hooper, Amanda J. ;
Hegele, Robert A. .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (08) :909-3
[26]   Clinical utility gene card for: Phosphomannomutase 2 deficiency [J].
Jaeken, Jaak ;
Lefeber, Dirk ;
Matthijs, Gert .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (08) :1054-1054
[27]   Clinical utility gene card for: dilated cardiomyopathy (CMD) [J].
Posafalvi, Anna ;
Herkert, Johanna C. ;
Sinke, Richard J. ;
van den Berg, Maarten P. ;
Mogensen, Jens ;
Jongbloed, Jan D. H. ;
van Tintelen, J. Peter .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (10) :1185-1185
[28]   Clinical utility gene card for: familial polycythaemia vera [J].
Hussein, Kais ;
Granot, Galit ;
Shpilberg, Ofer ;
Kreipe, Hans .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (06) :4-4
[29]   Clinical utility gene card for: Abetalipoproteinaemia - Update 2014 [J].
Burnett, John R. ;
Bell, Damon A. ;
Hooper, Amanda J. ;
Hegele, Robert A. .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (06) :e1-e3
[30]   Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy [J].
Jeru, Isabelle ;
Vatier, Camille ;
Araujo-Vilar, David ;
Vigouroux, Corinne ;
Lascols, Olivier .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (11) :4-4