Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jose María, Hernández-Pérez"'
Autor:
María Torres-Durán, Francisco Rodriguez-Frias, José Andrés Moreno Pérez, Nerea Matamala, Beatriz Baladron, Beatriz Martinez-Delgado, Raquel Saez, Pavel Strnad, Jose María Hernández-Pérez, Irene Belmonte, Gema Gomez-Mariano, Sabina Janciauskiene, Ignacio Blanco, Francisco Javier Michel
Publikováno v:
American Journal of Respiratory Cell and Molecular Biology. 63:444-451
Alpha-1 antitrypsin deficiency (AATD) is an inherited condition characterized by reduced levels of serum AAT due to mutations in the SERPINA1 (Serpin family A member 1) gene. The Pi*S (Glu264Val) is one of the most frequent deficient alleles of AATD,
Autor:
María Torres-Durán, Jose María Hernández-Pérez, Irene Belmonte, Sabina Janciauskiene, Nerea Matamala, Beatriz Baladron, Gema Gomez-Mariano, Raquel Saez, Pavel Strnad, Francisco Javier Michel, Ignacio Blanco, José Andrés Moreno Pérez, Francisco Rodriguez-Frias, Beatriz Martinez-Delgado
Publikováno v:
Molecular pathology and funct. genomics.
Alpha-1 Antitrypsin deficiency (AATD) is an inherited condition characterized by reduced levels of serum AAT due to mutations in SERPINA1 gene. Together, PiZ (Glu342Lys) and the PiS (Glu264Val) are the most frequent deficient alleles of AATD and redu
Autor:
Nerea, Matamala, Gema, Gomez-Mariano, Jose Antonio, Perez, Beatriz, Baladrón, María, Torres-Durán, Francisco Javier, Michel, Raquel, Saez, Jose María, Hernández-Pérez, Irene, Belmonte, Francisco, Rodriguez-Frias, Ignacio, Blanco, Pavel, Strnad, Sabina, Janciauskiene, Beatriz, Martinez-Delgado
Publikováno v:
American journal of respiratory cell and molecular biology. 63(4)
Alpha-1 antitrypsin deficiency (AATD) is an inherited condition characterized by reduced levels of serum AAT due to mutations in the