Zobrazeno 1 - 3
of 3
pro vyhledávání: '"pclo protein, human"'
Publikováno v:
Sultan Qaboos University Medical Journal, Vol 13, Iss 2, Pp 306-310 (2013)
We report here a 4-year-old boy with global developmental delay who was referred for karyotyping and fragile X studies. A small interstitial deletion on chromosome 7 at band 7q21 was detected in all cells examined. Subsequent molecular karyotype anal
Externí odkaz:
https://doaj.org/article/7a6300f9732b47a4b6934fbd8b553932
Autor:
Torsten Wüstenberg, Susanne Erk, Linda Haddad, Sylvia Richter, Eckart D. Gundelfinger, Andreas Heinz, Phöbe Schmierer, Emrah Düzel, Stephanie H. Witt, Constanze I. Seidenbecher, Maria Garbusow, Sven Cichon, Heike Tost, Sebastian Mohnke, Marcella Rietschel, Henrik Walter, Thomas W. Mühleisen, Hartmut Schütze, Markus M. Noethen, Björn H. Schott, Oliver Grimm, Anne Assmann, Joram Soch, Andreas Meyer-Lindenberg, Lydia Pöhland, Nina Romanczuk-Seiferth, Marieke Klein, Adrian Barman
Publikováno v:
Translational Psychiatry
Translational Psychiatry 4(3), e372 (2014). doi:10.1038/tp.2014.10
Translational Psychiatry 4(3), e372-e372 (2014). doi:10.1038/tp.2014.10
Translational Psychiatry 4(3), e372 (2014). doi:10.1038/tp.2014.10
Translational Psychiatry 4(3), e372-e372 (2014). doi:10.1038/tp.2014.10
Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in genes encoding the neuronal calcium channel CaV1.2 (CACNA1C; rs1006737) and the presynaptic active zone protein Piccolo (PCLO; rs2522833) as risk factors
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f075e28e88c725acae308912c7f62649
http://europepmc.org/articles/PMC3966038
http://europepmc.org/articles/PMC3966038
Autor:
Mazzaschi RL; Diagnostic Genetics, LabPLUS, Auckland, New Zealand., Ashton F, Aftimos S, George AM, Love DR
Publikováno v:
Sultan Qaboos University medical journal [Sultan Qaboos Univ Med J] 2013 May; Vol. 13 (2), pp. 306-10. Date of Electronic Publication: 2013 May 09.