TY  - JOUR 
AU  - Arias-Salgado, E. G.
AU  - Galvez, E.
AU  - Planas-Cerezales, L.
AU  - Pintado-Berninches, L.
AU  - Vallespin, E.
AU  - Martinez, P.
AU  - Carrillo, J.
AU  - Iarriccio, L.
AU  - Ruiz-Llobet, A.
AU  - Catala, A.
AU  - Badell-Serra, I.
AU  - Gonzalez-Granado, L. I.
AU  - Martin-Nalda, A.
AU  - Martinez-Gallo, M.
AU  - Galera-Minarro, A.
AU  - Rodriguez-Vigil, C.
AU  - Bastos-Oreiro, M.
AU  - de Nanclares, G. P.
AU  - Leiro Fernández, Virginia
AU  - Uria, M. L.
AU  - Diaz-Heredia, C.
AU  - Valenzuela, C.
AU  - Martin, S.
AU  - Lopez-Muniz, B.
AU  - Lapunzina, P.
AU  - Sevilla, J.
AU  - Molina-Molina, M.
AU  - Perona, R.
AU  - Sastre, L.
PY  - 2019
SN  - 1750-1172
UR  - http://hdl.handle.net/20.500.11940/15994
AB  - BACKGROUND: Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as telomeropathies. The genetic...
LA  - eng
KW  - Pulmonary Fibrosis
KW  - Adult
KW  - Exons
KW  - Anemia
KW  - Adolescent
KW  - Dyskeratosis Congenita
KW  - RNA
KW  - Telomere
KW  - Pedigree
KW  - Humans
KW  - DNA Repair
KW  - Young Adult
KW  - Telomerase
KW  - Telomere Shortening
KW  - Infant
TI  - Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes
DO  - 10.1186/s13023-019-1046-0
T2  - Orphanet Journal of Rare Diseases
KW  - CHUVI
VL  - 14
ER  -