Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Borian T. Buzhov"'
Autor:
Rune R. Frants, Richard J.L.F. Lemmers, Boriana Ishpekova, Radoslav Petkov, Ivailo Tournev, George W. Padberg, Silvère M. van der Maarel, Michiel J.R. van der Wielen, Borian T. Buzhov, Julia Petrova
Publikováno v:
Neuromuscular Disorders, 15, 471-5
Neuromuscular Disorders, 15, 7, pp. 471-5
Neuromuscular Disorders, 15, 7, pp. 471-5
Item does not contain fulltext Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat on 4q35. We describe a FSHD family of unusual genetic complexity presenting with two independent mitotic contr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::422cd848839834915088b579a03b35d7
https://doi.org/10.1016/j.nmd.2005.03.005
https://doi.org/10.1016/j.nmd.2005.03.005
Autor:
Rune R. Frants, Borian T. Buzhov, Ivo Kremensky, Ivailo Tournev, Julia Petrova, Silvère M. van der Maarel, Richard J.L.F. Lemmers, Chayka Dikova
Publikováno v:
Human genetics. 116(4)
Facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat on chromosome 4q. Genetic confirmation of the clinical diagnosis of FSHD is complicated by the presence of a homologous repeat on chromosome 10q and the frequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b3bc8ae82f7288c5ab058f95b40c557
https://pubmed.ncbi.nlm.nih.gov/15645183
https://pubmed.ncbi.nlm.nih.gov/15645183