Condition: X-linked agammaglobulinemia with growth hormone deficiency
rs128620185 in
BTK gene and
X-linked agammaglobulinemia with growth hormone deficiency
PMID 9143921 1997 Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.
PMID 8939985 1996 Mutation of the pleckstrin homology domain of Bruton's tyrosine kinase in immunodeficiency impaired inositol 1,3,4,5-tetrakisphosphate binding capacity.
PMID 11668622 2001 Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia.
PMID 19904586 2010 Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia.
PMID 11472359 2001 Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females.
PMID 7849721 1994 Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.
PMID 12655572 2003 Bruton tyrosine kinase gene mutations in Argentina.
PMID 12217331 2002 Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study.
PMID 15661032 2005 Genetic analysis of patients with defects in early B-cell development.
PMID 18677443 2009 Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina.
PMID 7880320 1994 Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.
PMID 17765309 2008 Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia.
PMID 11742281 2001 Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.
PMID 16951917 2006 Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations.
PMID 9445504 1998 Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.
PMID 27980540 2016 Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.
PMID 23424595 2013 X-linked agammaglobulinemia presenting with secondary hemophagocytic syndrome: a case report.
PMID 20529312 2010 The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.
PMID 28359783 2017 Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.
PMID 8695804 1996 Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.
PMID 9260159 1997 Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia.
PMID 12204007 2002 Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.
PMID 7711734 1995 DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.
PMID 12405164 2002 XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.
PMID 8938104 1996 Neutropenia in X-linked agammaglobulinemia.
PMID 9545398 1998 Mutations in btk in patients with presumed X-linked agammaglobulinemia.
PMID 7633429 1995 Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.
PMID 10737994 2000 Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.