Condition: X-linked agammaglobulinemia
rs104894770 in
BTK gene and
X-linked agammaglobulinemia
PMID 7633420 1995 Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).
PMID 7849006 1995 Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia.
PMID 7849697 1994 Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.
PMID 7633429 1995 Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.
PMID 8723128 1996 Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia.
PMID 10678660 2000 Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.
PMID 7711734 1995 DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.
PMID 8834236 1996 Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.
PMID 8594569 1996 BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
PMID 9016530 1997 BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
PMID 9545398 1998 Mutations in btk in patients with presumed X-linked agammaglobulinemia.
PMID 7897635 1995 A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.
PMID 8013627 1994 An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.
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 7849721 1994 Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.
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 9280283 1997 Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.
PMID 7627183 1995 Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.
PMID 10220140 1999 Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.
PMID 10612838 2000 Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients.
PMID 11742281 2001 Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.
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 27512878 2016 Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).
PMID 11102984 2000 BTK mutations in patients with X-linked agammaglobulinemia: lack of correlation between presence of peripheral B lymphocytes and specific mutations.
PMID 19039656 2009 Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.
PMID 15661032 2005 Genetic analysis of patients with defects in early B-cell development.
PMID 16160918 2005 Severe neutropenia in Japanese patients with x-linked agammaglobulinemia.
PMID 19904586 2010 Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia.
PMID 21397315 2011 Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.
PMID 16712653 2006 Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing.
PMID 10887125 2000 Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway.
PMID 11809909 2002 Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children.
PMID 12405164 2002 XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.
PMID 12655572 2003 Bruton tyrosine kinase gene mutations in Argentina.
PMID 10737994 2000 Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.
rs128622212 in
BTK;TIMM8A gene and
X-linked agammaglobulinemia
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 7849721 1994 Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.
PMID 8013627 1994 An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.
PMID 9016530 1997 BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
PMID 7633429 1995 Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.
PMID 9280283 1997 Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.
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 8834236 1996 Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.
PMID 9545398 1998 Mutations in btk in patients with presumed X-linked agammaglobulinemia.
PMID 8723128 1996 Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia.
PMID 7711734 1995 DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.
PMID 7849697 1994 Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.
PMID 8594569 1996 BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
PMID 10612838 2000 Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients.
PMID 7849006 1995 Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia.
PMID 7897635 1995 A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.
PMID 7633420 1995 Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).
PMID 10678660 2000 Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.
PMID 7627183 1995 Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.
PMID 10220140 1999 Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.