1.
Rev. patol. respir
; 17(4): 123-126, oct.-dic. 2014. tab, graf
Artigo
em Espanhol
| IBECS
| ID: ibc-130877
RESUMO
No disponible
Assuntos
Humanos , Doença Pulmonar Obstrutiva Crônica/tratamento farmacológico , Broncodilatadores/uso terapêutico , Progressão da Doença , Fenômenos Fisiológicos Respiratórios
2.
J Cyst Fibros
; 7(6): 520-2, 2008 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18676185
RESUMO
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.
