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Table 1 Phenotypes of the analysed XLP patients and patients with early onset non-Hodgkin lymphoma From: Epstein—Barr Virus-Negative Boys With Non-Hodgkin.

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Presentation on theme: "Table 1 Phenotypes of the analysed XLP patients and patients with early onset non-Hodgkin lymphoma From: Epstein—Barr Virus-Negative Boys With Non-Hodgkin."— Presentation transcript:

1 Table 1 Phenotypes of the analysed XLP patients and patients with early onset non-Hodgkin lymphoma
From: Epstein—Barr Virus-Negative Boys With Non-Hodgkin Lymphoma Are Mutated in the Sh2D1A Gene, as Are Patients With X-Linked Lymphoproliferative Disease (XLP) Hum Mol Genet. 1999;8(13): doi: /hmg/ Hum Mol Genet | © 1999 Oxford University Press

2 Figure 1 Gene organization of SH2D1A and TNM1.
From: Epstein—Barr Virus-Negative Boys With Non-Hodgkin Lymphoma Are Mutated in the Sh2D1A Gene, as Are Patients With X-Linked Lymphoproliferative Disease (XLP) Hum Mol Genet. 1999;8(13): doi: /hmg/ Hum Mol Genet | © 1999 Oxford University Press

3 Table 2 Mutations in the SH2D1A gene
From: Epstein—Barr Virus-Negative Boys With Non-Hodgkin Lymphoma Are Mutated in the Sh2D1A Gene, as Are Patients With X-Linked Lymphoproliferative Disease (XLP) Hum Mol Genet. 1999;8(13): doi: /hmg/ Hum Mol Genet | © 1999 Oxford University Press

4 Figure 2 Stop mutation in family 03. (a) Pedigree with haplotype
Figure 2 Stop mutation in family 03. (a) Pedigree with haplotype. (b) Stop mutation T599A (Y100X) revealed by direct sequencing (mutation above, wild-type sequence below). From: Epstein—Barr Virus-Negative Boys With Non-Hodgkin Lymphoma Are Mutated in the Sh2D1A Gene, as Are Patients With X-Linked Lymphoproliferative Disease (XLP) Hum Mol Genet. 1999;8(13): doi: /hmg/ Hum Mol Genet | © 1999 Oxford University Press

5 Figure 3 Aberrant splicing products and usage of cryptic splice sites
Figure 3 Aberrant splicing products and usage of cryptic splice sites. Consequences of the splice site mutations given in Table 2 are shown. From: Epstein—Barr Virus-Negative Boys With Non-Hodgkin Lymphoma Are Mutated in the Sh2D1A Gene, as Are Patients With X-Linked Lymphoproliferative Disease (XLP) Hum Mol Genet. 1999;8(13): doi: /hmg/ Hum Mol Genet | © 1999 Oxford University Press

6 Figure 4 Deletion of exon 1 in brothers with early onset NHL
Figure 4 Deletion of exon 1 in brothers with early onset NHL. Exons 1 and 2 from the patients (family 10) were amplified, and the products obtained separated on an agarose gel. Lack of exon 1 in the patients was confirmed by Southern blot hybridization. From: Epstein—Barr Virus-Negative Boys With Non-Hodgkin Lymphoma Are Mutated in the Sh2D1A Gene, as Are Patients With X-Linked Lymphoproliferative Disease (XLP) Hum Mol Genet. 1999;8(13): doi: /hmg/ Hum Mol Genet | © 1999 Oxford University Press

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