Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency.
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| Title: | Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency. |
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| Authors: | Kueppers F; Department of Thoracic Medicine and Surgery, Lewis Katz School of Medicine, Temple University, Philadelphia, PA, USA. Friedrich.Kueppers@tuhs.temple.edu., Andrake MD; Molecular Therapeutics Program, Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA., Xu Q; Molecular Therapeutics Program, Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA., Dunbrack RL Jr; Molecular Therapeutics Program, Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA., Kim J; Biocerna LLC, Fulton, Maryland, USA., Sanders CL; Biocerna LLC, Fulton, Maryland, USA. |
| Source: | BMC medical genetics [BMC Med Genet] 2019 Jul 15; Vol. 20 (1), pp. 125. Date of Electronic Publication: 2019 Jul 15. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1471-2350 |
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| DOI: | 10.1186/s12881-019-0852-5 |
