Alanine-scanning mutagenesis of human STAT1 to estimate loss- or gain-of-function variants

BACKGROUND: Germline heterozygous mutations in human STAT1 can cause loss of function (LOF), as in patients with Mendelian susceptibility to mycobacterial diseases (MSMD), or gain of function (GOF), as in patients with chronic mucocutaneous candidiasis (CMC). LOF and GOF mutations are equally rare a...

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Izdano u:J Allergy Clin Immunol
Glavni autori: Kagawa, Reiko, Fujiki, Ryoji, Tsumura, Miyuki, Sakata, Sonoko, Nishimura, Shiho, Itan, Yuval, Kong, Xiao-Fei, Kato, Zenichiro, Ohnishi, Hidenori, Hirata, Osamu, Saito, Satoshi, Ikeda, Maiko, El Baghdadi, Jamila, Bousfiha, Aziz, Fujiwara, Kaori, Oleastro, Matias, Yancoski, Judith, Perez, Laura, Danielian, Silvia, Ailal, Fatima, Takada, Hidetoshi, Hara, Toshiro, Puel, Anne, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Casanova, Jean-Laurent, Ohara, Osamu, Okada, Satoshi, Kobayashi, Masao
Format: Artigo
Jezik:Inglês
Izdano: 2016
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5471135/
https://ncbi.nlm.nih.gov/pubmed/28011069
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2016.09.035
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