Zobrazeno 1 - 1
of 1
pro vyhledávání: '"autoinflammatory syndrome with enterocolitis"'
Autor:
T. V. Sleptsova, E. I. Alexeeva, K. V. Savost’yanov, A. A. Pushkov, T. M. Bzarova, S. I. Valieva, O. L. Lomakina, R. V. Denisova, K. B. Isaeva, E. G. Chistyakova
Publikováno v:
Педиатрическая фармакология, Vol 13, Iss 2, Pp 143-148 (2016)
The article shows the observation of rare NLPC4-associated autoinflammatory syndrome with enterocolitis and familial cold urticaria. Diagnosis is confirmed molecularly-genetically: previously not described mutation c.928C>T in the heterozygous state
Externí odkaz:
https://doaj.org/article/02d2b0c5e3464d21b2c28ffab04d2102
