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Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients


, : Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. Human Mutation 15(1): 117-117

Mutations in the Bruton's tyrosine kinase (BTK ) gene are responsible for X-linked Agammaglobulinemia (XLA), an immunodeficiency caused by a block in B cell differentiation. Non Isotopic RNAse Cleavage Assay (NIRCA), followed by sequencing was used to screen for BTK mutations in 11 Italian XLA patients. Nine novel mutations were identified: 6 missense (Y39S, L512P, L512Q, R544G, S578Y, E589K), one non-sense (Q260X), one frameshift (1599-1602del GCGC) and one in-frame insertion (2037-2038insTTTTAG), that represents the first case of premature stop codon introduction in the BTK coding frame. These data support the high molecular heterogeneity of BTK gene in XLA disease and provide new insight to the diagnosis and to the role of BTK domain in XLA and in B cell signal transduction and development. Hum Mutat 15:117, 2000.

US$19.90

PMID: 10612838

DOI: 10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU26>3.0.CO;2-H


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Gussone N.; Eisenhauer A.; Tiedemann R.; Haug G.H.; Heuser A.; Bock B.; Naegler T.F.; Mueller A., 2004: Reconstruction of Caribbean Sea surface temperature and salinity fluctuations in response to the Pliocene closure of the Central American Gateway and radiative forcing, using delta (super 44/ 40) Ca, delta (super 18) O and Mg/ Ca ratios. The delta (super 18) O values of planktonic foraminifera increased in the Caribbean by about 0.5ppm relative to the equatorial East Pacific values between 4.6 and 4.2 Ma as a consequence of the closure of the Central American Gateway (CAG). This i...

Bogdanova T.N., 1978: Separation of the lower Aptian of Turkmenia. Ezhegodnik Vsesoyuznogo Paleontologicheskogo Obshchestva 21: 70-79

Phillips, A.O.; Steadman, R.; Topley, N.; Williams, J.D., 1995: The role of PDGF in the control of TGF-beta-1 synthesis by human proximal tubular cells. Journal of the American Society of Nephrology 6(3): 906

Vis, H.L.; Ruchababisha, M.; Hennart, P., 1987: Breast-feeding and the growth and development of the infant. Milk production and infant growth were compared in 2 regions of Zaire: the highlands of Central Africa and the city of Bukavu. There were no statistical differences between the 2 groups in breastfeeding patterns or maternal prolactin levels. There...

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