Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin

Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin

Item
http://www.wikidata.org/entity/Q34570030
Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patientsIdentification of intronic point mutations as an alternative mechanism for p53 inactivation in lung cancer.Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadridIdentification and characterisation of eight novel SERPINA1 Null mutationsAlpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exonsWhy has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesisIdentification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.Coordinated DNA methylation and gene expression changes in smoker alveolar macrophages: specific effects on VEGF receptor 1 expressionMolecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele.Molecular biology and respiratory disease. 7. The alpha 1 antitrypsin gene and chronic lung diseaseAlpha-1-antitrypsin deficiency: accumulation or degradation of mutant variants within the hepatic endoplasmic reticulum.Can we change a genetically determined future?A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure.Pulmonary cell biology.
P2860

Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin

Item
http://www.wikidata.org/entity/Q34570030
description
1989 nî lūn-bûn
@nan
1989 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Alpha 1-antitrypsin deficiency ...... producing alpha 1-antitrypsin
@ast
Alpha 1-antitrypsin deficiency ...... producing alpha 1-antitrypsin
@en
Alpha 1-antitrypsin deficiency ...... producing alpha 1-antitrypsin
@nl
type
label
Alpha 1-antitrypsin deficiency ...... producing alpha 1-antitrypsin
@ast
Alpha 1-antitrypsin deficiency ...... producing alpha 1-antitrypsin
@en
Alpha 1-antitrypsin deficiency ...... producing alpha 1-antitrypsin
@nl
prefLabel
Alpha 1-antitrypsin deficiency ...... producing alpha 1-antitrypsin
@ast
Alpha 1-antitrypsin deficiency ...... producing alpha 1-antitrypsin
@en
Alpha 1-antitrypsin deficiency ...... producing alpha 1-antitrypsin
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P932
P356
P1433
P1476
Alpha 1-antitrypsin deficiency ...... producing alpha 1-antitrypsin
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P932