Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.

Autor: Marakhonov AV; Research Centre for Medical Genetics, Moscow 115478, Russia; Moscow Institute of Physics and Technology, Dolgoprudny 141701, Russia., Tabakov VY; Research Centre for Medical Genetics, Moscow 115478, Russia., Zernov NV; Research Centre for Medical Genetics, Moscow 115478, Russia., Dadali EL; Research Centre for Medical Genetics, Moscow 115478, Russia., Sharkova IV; Research Centre for Medical Genetics, Moscow 115478, Russia., Skoblov MY; Research Centre for Medical Genetics, Moscow 115478, Russia; Moscow Institute of Physics and Technology, Dolgoprudny 141701, Russia. Electronic address: mskoblov@generesearch.ru.

Publikováno v: Gene [Gene] 2018 Sep 25; Vol. 672, pp. 165-171. Date of Electronic Publication: 2018 Jun 09.

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.

Autor: Zernov NV; Federal State Budgetary Institution 'Research Centre for Medical Genetics,' Moscow, Russia. Electronic address: nzernov01@gmail.com., Skoblov MY; Federal State Budgetary Institution 'Research Centre for Medical Genetics,' Moscow, Russia; The Moscow Institute of Physics and Technology, Dolgoprudny, Moscow Region, Russia., Marakhonov AV; Federal State Budgetary Institution 'Research Centre for Medical Genetics,' Moscow, Russia; Regenerative and Genetic Medical Center of the Human Stem Cells Institute, Moscow, Russia., Shimomura Y; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan., Vasilyeva TA; Federal State Budgetary Institution 'Research Centre for Medical Genetics,' Moscow, Russia., Konovalov FA; Federal State Budgetary Institution 'Research Centre for Medical Genetics,' Moscow, Russia; Regenerative and Genetic Medical Center of the Human Stem Cells Institute, Moscow, Russia., Abrukova AV; Ministry of Health and Social Development of Chuvash Republic, Presidential Perinatal Center, Chuvash Republic, Cheboksary, Russia., Zinchenko RA; Federal State Budgetary Institution 'Research Centre for Medical Genetics,' Moscow, Russia; Pirogov Russian National Research Medical University, Moscow, Russia; Moscow State University of Medicine and Dentistry, Moscow, Russia.

Publikováno v: The Journal of investigative dermatology [J Invest Dermatol] 2016 Jun; Vol. 136 (6), pp. 1097-1105. Date of Electronic Publication: 2016 Feb 20.