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pro vyhledávání: '"Majed M. Alremeithi"'
Autor:
Amal M. Yahya, Suleiman Al-Hammadi, Nidal O. AlHashaykeh, Salwa S. Alkaabi, Abdulghani S. Elomami, Asia A. AlMulla, Majed M. Alremeithi, Rewan M. Kabbary, Ranjit Vijayan, Abdul-Kader Souid
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
We present here a male young infant with X-linked severe combined immunodeficiency (MIM#300400) due to the novel nonsense variant of IL2RG (interleukin 2 receptor, gamma; MIM#308380), NM_000206.2(IL2RG):c.820_823dup p.Ser275Asnfs*29. He developed agg
Externí odkaz:
https://doaj.org/article/8efcd51f17b748ad95ae39d306a8ddc7
