1.
Rev. patol. respir
; 17(4): 123-126, oct.-dic. 2014. tab, graf
Article
in Spanish
| IBECS
| ID: ibc-130877
ABSTRACT
No disponible
Subject(s)
Humans , Pulmonary Disease, Chronic Obstructive/drug therapy , Bronchodilator Agents/therapeutic use , Disease Progression , Respiratory Physiological Phenomena
2.
J Cyst Fibros
; 7(6): 520-2, 2008 Nov.
Article
in English
| MEDLINE
| ID: mdl-18676185
ABSTRACT
We report three novel CFTR missense mutations detected in Spanish patients from Galicia (North West of Spain). In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. In the other two cases, both heterozygous for novel mutations combined with the F508del mutation, clinical symptoms were different depending on the mutation, detected as M595I and A107V.
