Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Velina Guerguelcheva"'
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