Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
about
The Hdj-2/Hsc70 chaperone pair facilitates early steps in CFTR biogenesisNonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.Assessing the Disease-Liability of Mutations in CFTRMild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR.Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.Association of 1078 del T cystic fibrosis mutation with severe disease.
P2860
Q24533965-E66C007C-4271-4E4E-B27E-16E505130733Q33909657-8FE94F97-08A5-4AE6-90AE-E69A924872D8Q36526518-CA99CAE7-D9D6-4160-835A-A41EAE4E4CD5Q41649582-ACB76FA2-DD70-49B0-BA21-8DD3F431E4C8Q41824743-F5DE812C-02A6-4180-9740-E037D4AA842AQ42038231-0B0867AA-C8BB-4ED0-939A-760BD90B4A38Q42592070-49DBF6E6-644E-420D-83AC-82656CF74819Q42657352-DDFEA00E-CED7-46E8-BA41-230FD38C8CC6
P2860
Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
description
1992 nî lūn-bûn
@nan
1992 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Nine cystic fibrosis patients ...... mild or moderate lung disease.
@ast
Nine cystic fibrosis patients ...... mild or moderate lung disease.
@en
type
label
Nine cystic fibrosis patients ...... mild or moderate lung disease.
@ast
Nine cystic fibrosis patients ...... mild or moderate lung disease.
@en
prefLabel
Nine cystic fibrosis patients ...... mild or moderate lung disease.
@ast
Nine cystic fibrosis patients ...... mild or moderate lung disease.
@en
P2093
P2860
P356
P1476
Nine cystic fibrosis patients ...... mild or moderate lung disease.
@en
P2093
Bonizzato A
Gasparini P
Mastella G
Pignatti PF
P2860
P304
P356
10.1136/JMG.29.8.558
P407
P577
1992-08-01T00:00:00Z