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Can we change a genetically determined future?

We describe the clinical evolution of the first patient diagnosed with a severe α-1 antitrypsin (AAT) deficiency caused by a rare null allele (Q0Ourém), over the past 18 years. We highlight the clinical course of the disease as well as the evolution of the pulmonary function tests from initial diagn...

詳細記述

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書誌詳細
出版年:BMJ Case Rep
主要な著者: Fernandes, Lígia Rodrigues, Rodrigues, Luis Vaz, Costa, Filipa, Martins, Yvette
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4434296/
https://ncbi.nlm.nih.gov/pubmed/25979955
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2013-200797
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