Zobrazeno 1 - 2
of 2
pro vyhledávání: '"MJ Ruiz-Falcó"'
Autor:
MJ Ruiz-Falcó, Jesús Molano, Roser Pons, M Muñoz-Calero, Elena Vallespín, Julián Nevado, J Campistol, A Dinopoulos, A Santana, Loreto Martorell, C Sierra, Paloma Martínez-Montero
Publikováno v:
Clinical Genetics. 84:566-571
Pelizaeus-Merzbacher disease (PMD) is caused in most cases by either duplications or point mutations in the PLP1 gene. This disease, a dysmyelinating disorder affecting mainly the central nervous system, has a wide clinical spectrum and its causing m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ed467cd83bab7eef09a655ae026820c
https://doi.org/10.1111/cge.12103
https://doi.org/10.1111/cge.12103
Autor:
Martínez-Montero P; INGEMM, IdIPAZ, CIBERER, Hospital Universitario La Paz, Madrid, Spain., Muñoz-Calero M, Vallespín E, Campistol J, Martorell L, Ruiz-Falcó MJ, Santana A, Pons R, Dinopoulos A, Sierra C, Nevado J, Molano J
Publikováno v:
Clinical genetics [Clin Genet] 2013 Dec; Vol. 84 (6), pp. 566-71. Date of Electronic Publication: 2013 Mar 11.