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Mutation Screening of the BTK Gene in 56 Families With X-Linked Agammaglobulinemia (XLA): 47 Unique Mutations Without Correlation to Clinical Course

✍ Scribed by Holinski-Feder, E.; Weiss, M.; Brandau, O.; Jedele, K. B.; Nore, B.; Backesjo, C. M.; Vihinen, M.; Hubbard, S. R.; Belohradsky, B. H.; Smith, C.I. E.; Meindl, A.

Book ID: 125511615
Publisher: American Academy of Pediatrics
Year: 1998
Tongue: English
Weight: 662 KB
Volume: 101
Category: Article
ISSN: 0031-4005
DOI: 10.1542/peds.101.2.276

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X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. Twenty Australian patients with an XLA phenotype, from 15 unrelated families, were found to have 14 mutations. Five of the mutations were previously described c.83G>A (p.R28H), c.86