Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Joannah Kim"'
Autor:
Friedrich Kueppers, Mark D. Andrake, Qifang Xu, Roland L. Dunbrack, Joannah Kim, Christopher L. Sanders
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-19 (2019)
Abstract Background Alpha 1 Antitrypsin (AAT) is a key serum proteinase inhibitor encoded by SERPINA1. Sequence variants of the gene can cause Alpha 1 Antitrypsin Deficiency (AATD), a condition associated with lung and liver disease. The majority of
Externí odkaz:
https://doaj.org/article/d32b605cb01a47899ade581892491c43
Autor:
Kimberly E. Foil, M. Gwen Blanton, Chris Sanders, Joannah Kim, Haitham S. Al Ashry, Suchit Kumbhare, Charlie Strange
Publikováno v:
Pulmonary Medicine, Vol 2018 (2018)
Rationale. Individuals with a single Z mutation in the SERPINA1 gene that codes for alpha-1 antitrypsin (AAT) are at increased risk for COPD if they have ever-smoked. Whether additional variants alter the risk for COPD in this population remains unkn
Externí odkaz:
https://doaj.org/article/ae8f975dedd540fe84b9d1c8789c9848
Autor:
Roland L. Dunbrack, Qifang Xu, Friedrich Kueppers, Mark Andrake, Joannah Kim, Christopher Sanders
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-19 (2019)
BMC Medical Genetics
BMC Medical Genetics
Background Alpha 1 Antitrypsin (AAT) is a key serum proteinase inhibitor encoded by SERPINA1. Sequence variants of the gene can cause Alpha 1 Antitrypsin Deficiency (AATD), a condition associated with lung and liver disease. The majority of AATD case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c6a2167b1d86bb6cfd2574abe0b4d57
http://link.springer.com/article/10.1186/s12881-019-0852-5
http://link.springer.com/article/10.1186/s12881-019-0852-5
Autor:
Christopher Sanders, Joannah Kim
Publikováno v:
Chest. 150:1131A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4a468ead33cd0e960bc9a603957227a
https://doi.org/10.1016/j.chest.2016.08.1241
https://doi.org/10.1016/j.chest.2016.08.1241
Autor:
Kueppers, Friedrich, Andrake, Mark, Qifang Xu, Dunbrack, Roland, Joannah Kim, Sanders, Christopher
Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency (DOCX 25 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f85e3922a703569face770fdee8eb4b1
Autor:
Kueppers, Friedrich, Andrake, Mark, Qifang Xu, Dunbrack, Roland, Joannah Kim, Sanders, Christopher
Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency (DOCX 25 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8cdddf1e01f8068f8fb26fc189755be2