Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Lorna Marns"'
Autor:
Dana Šafka Brožková, Rene Barro-Soria, H. Peter Larsson, Petra Laššuthová, Shawna M. E. Feely, Pavel Seeman, Eric Powell, Yi-Chung Lee, Elena Buglo, Daniel G. Isom, Cima Saghira, Feifei Tao, Royston Ong, Yunhong Bai, Steven S. Scherer, Lorna Marns, Chelsea Bacon, Gianina Ravenscroft, Megan F. Baxter, Lisa Abreu, Stephan Züchner, Jana Haberlová, Phillipa J. Lamont, Adriana P. Rebelo, Fiore Manganelli, Mark R. Davis, Lucio Santoro, Steve Courel, Ki Wha Chung, Dana M. Bis, Radim Mazanec, Michael E. Shy, Byung Ok Choi, Nigel G. Laing
Publikováno v:
The American Journal of Human Genetics. 102:505-514
Although mutations in more than 90 genes are known to cause CMT, the underlying genetic cause of CMT remains unknown in more than 50% of affected individuals. The discovery of additional genes that harbor CMT2-causing mutations increasingly depends o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cedc66075ce50765bde1ecbd17fed84
https://doi.org/10.1016/j.ajhg.2018.01.023
https://doi.org/10.1016/j.ajhg.2018.01.023
Autor:
Andrea Müllner-Eidenböck, Dora Angelicheva, Kiau Kiun Yong, Ivailo Tournev, Luba Kalaydjieva, Raymonda Varon, Hua Tang, Luitgard M. Neumann, Luciano Merlini, Petra Ambrugger, Anke Reinhold, Christina Steglich, Frank Baas, Hanns Lochmüller, Velina Guerguelcheva, Kathryn J. Swoboda, Maggie C. Walter, Bharti Morar, P. K. Thomas, Lorna Marns, Marcel S G Kwa, Arpad von Moers, Neil Risch, Rebecca Gooding, Ivo Kremensky, Joachim Burger
Publikováno v:
Nature genetics, 35(2), 185-189. Nature Publishing Group
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome ( OMIM 604168) is an autosomal recessive developmental disorder that occurs in an endogamous group of Vlax Roma (Gypsies; refs. 1-3). We previously localized the gene associated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39db7be308f1b64c790b6a09f04a35c1
https://pure.amc.nl/en/publications/partial-deficiency-of-the-cterminaldomain-phosphatase-of-rna-polymerase-ii-is-associated-with-congenital-cataracts-facial-dysmorphism-neuropathy-syndrome(26058531-bd41-4aee-88f1-881fa16714a9).html
https://pure.amc.nl/en/publications/partial-deficiency-of-the-cterminaldomain-phosphatase-of-rna-polymerase-ii-is-associated-with-congenital-cataracts-facial-dysmorphism-neuropathy-syndrome(26058531-bd41-4aee-88f1-881fa16714a9).html
