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Quantitation of HIV-1 specific RNA and DNA is pivotal to understanding the pathophysiology of HIV-1 diseases. A method has been developed for quantitation of HIV-1 DNA/RNA by real-time PCR using a unique fluorogenic primer-probe adduct known as scorp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee79e93971e4081eebdad8bd732e95d2
https://doi.org/10.1016/s0166-0934(00)00288-3

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Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in theBtk gene

Autor: Bratin K. Saha, Sherill K. Curtis, Michael D. Hebert

Publikováno v: American Journal of Medical Genetics. 90:229-232

We report on an X-linked agammaglobulinemia (XLA) family in which mothers of two affected cousins were monozygotic twins. We analyzed the Btk gene of several members in three generations of the family by SSCP analysis, DNA sequencing, and RFLP analys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8f0c4d9dea8518f68c8a2112ea43d815
https://doi.org/10.1002/(sici)1096-8628(20000131)90:3<229::aid-ajmg8>3.0.co

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Mutations in the RP2 Gene Cause Disease in 10% of Families with Familial X-Linked Retinitis Pigmentosa Assessed in This Study

Autor: Alison J. Hardcastle, Rachel M Taylor, Bratin K. Saha, Catherine Plant, Marcelle Jay, Shomi S. Bhattacharya, Alan C. Bird, Dawn L. Thiselton, Lionel Van Maldergem

Publikováno v: The American Journal of Human Genetics. 64:1210-1215

We wish to thank Dr. Wolfgang Berger for kindly providing the primer sequences 2 wk prior to publication. The authors also wish to thank all the clinicians and participating families who have supported our research over the years; Dr. Kamal Dulai for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2085950b62957b9f34bbe72ee42fcd0
https://doi.org/10.1086/302325

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Molecular and Structural Characterization of Five Novel Mutations in the Bruton’s Tyrosine Kinase Gene from Patients with X-Linked Agammaglobulinemia

Autor: Bratin K. Saha, Mauno Vihinen, Sherill K. Curtis, Larry B. Vogler

Publikováno v: Molecular Medicine. 3:477-485

The Btk (Bruton’s tyrosine kinase) gene has been shown to be mutated in the human immunodeficiency disease, XLA (X-linked agammaglobulinemia). Btk is a member of the Tec family of cytosolic protein tyrosine kinases with distinct functional domains

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::26e1c33d714f493d57e30aac92b8ff68
https://doi.org/10.1007/bf03401694

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Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping

Autor: M L Wolf, Alison J. Hardcastle, S S Bhattacharya, L. Van Maldergem, Bratin K. Saha, Dawn L. Thiselton, R M Hampson, M Nayudu

Publikováno v: Genome Research. 6:1093-1102

Genetic linkage studies have implicated at least two loci for X-linked retinitis pigmentosa (XLRP) on proximal Xp. We now report a defined genetic localization for the RP2 locus to a 5-cM interval in Xp11.3-11.23. Haplotype analysis of polymorphic ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83785c08970fe3acf3ddb0824181aa6f
https://doi.org/10.1101/gr.6.11.1093

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