A novel BTK gene mutation, c.82delC (p.Arg28 Alafs(*)5), in a Korean family with X-linked agammaglobulinemia

X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton’s tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this a...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Korean J Pediatr
Glavni autori: Lee, Jeongeun, Rhee, Minhee, Min, Taek Ki, Bang, Hae In, Jang, Mi-Ae, Kang, Eun-Suk, Kim, Hee-Jin, Yang, Hyeon-Jong, Pyun, Bok Yang
Format: Artigo
Jezik:Inglês
Izdano: The Korean Pediatric Society 2016
Teme:
Case Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5177711/
https://ncbi.nlm.nih.gov/pubmed/28018445
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.11.S49
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items