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Youssoufian, Hagop, Kazazian, Haig H., Phillips, Deborah G., Aronis, Sophia, Tsiftis, George, Brown, Valerie A., Antonarakis, Stylianos E. (1986) Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature, 324 (6095). 380-382 doi:10.1038/324380a0

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Reference TypeJournal (article/letter/editorial)
TitleRecurrent mutations in haemophilia A give evidence for CpG mutation hotspots
JournalNature
AuthorsYoussoufian, HagopAuthor
Kazazian, Haig H.Author
Phillips, Deborah G.Author
Aronis, SophiaAuthor
Tsiftis, GeorgeAuthor
Brown, Valerie A.Author
Antonarakis, Stylianos E.Author
Year1986 (November)Volume324
Issue6095
PublisherSpringer Science and Business Media LLC
DOIdoi:10.1038/324380a0Search in ResearchGate
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Mindat Ref. ID2906571Long-form Identifiermindat:1:5:2906571:0
GUID0
Full ReferenceYoussoufian, Hagop, Kazazian, Haig H., Phillips, Deborah G., Aronis, Sophia, Tsiftis, George, Brown, Valerie A., Antonarakis, Stylianos E. (1986) Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature, 324 (6095). 380-382 doi:10.1038/324380a0
Plain TextYoussoufian, Hagop, Kazazian, Haig H., Phillips, Deborah G., Aronis, Sophia, Tsiftis, George, Brown, Valerie A., Antonarakis, Stylianos E. (1986) Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature, 324 (6095). 380-382 doi:10.1038/324380a0
In(1986, November) Nature Vol. 324 (6095) Springer Science and Business Media LLC

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Kazazian, Haig H., Wong, Corinne, Youssoufian, Hagop, Scott, Alan F., Phillips, Deborah G., Antonarakis, Stylianos E. (1988) Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature, 332 (6160). 164-166 doi:10.1038/332164a0
Youssoufian, H., Antonarakis, S. E., Aronis, S., Tsiftis, G., Phillips, D. G., Kazazian, H. H. (1987) Characterization of five partial deletions of the factor VIII gene. Proceedings of the National Academy of Sciences, 84 (11) 3772-3776 doi:10.1073/pnas.84.11.3772
Kazazian, Haig H., Orkin, Stuart H., Markham, Alexander F., Chapman, Catherine R., Youssoufian, Hagop, Waber, Pamela G. (1984) Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in Mediterraneans. Nature, 310 (5973). 152-154 doi:10.1038/310152a0
Orkin, Stuart H., Kazazian, Haig H., Antonarakis, Stylianos E., Ostrer, Harry, Goff, Sabra C., Sexton, Julianne P. (1982) Abnormal RNA processing due to the exon mutation of βE-globin gene. Nature, 300 (5894). 768-769 doi:10.1038/300768a0
Cutting, Garry R., Kasch, Laura M., Rosenstein, Beryl J., Zielenski, Julian, Tsui, Lap-Chee, Antonarakis, Stylianos E., Kazazian Jr, Haig H. (1990) A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature, 346 (6282). 366-369 doi:10.1038/346366a0
Orkin, Stuart H., Kazazian, Haig H., Antonarakis, Stylianos E., Goff, Sabra C., Boehm, Corinne D., Sexton, Julianne P., Waber, Pamela G., Giardina, Patricia J. V. (1982) Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature, 296 (5858). 627-631 doi:10.1038/296627a0
Antonarakis, Stylianos E. (2009) William Allan Award Introduction: Haig H. Kazazian, Jr. The American Journal of Human Genetics, 84 (2) 103-104 doi:10.1016/j.ajhg.2009.01.002
Kazazian, Haig H. (2020) 2019 Allan Award Introduction: Stylianos Antonarakis. The American Journal of Human Genetics, 106 (3) 288 doi:10.1016/j.ajhg.2020.01.006
KAZAZIAN, HAIG H., CHAKRAVARTI, ARAVINDA, ORKIN, STUART H. (1983) Identity of different mutations for deleterious genes (reply). Nature, 301 (5896). 176-177 doi:10.1038/301176b0
ANTONARAKIS, STYLIANOS E., KITTUR, SMITA D., METAXOTOU, CATERINA, BARTSOCAS, CHRISTOS, KITSIOU, SOPHIA, WATKINS, PAUL C., PATEL, ACHYUT S., WARREN, ANDREW C., GUSELLA, JAMES F., GRONER, YORAM, CHAKRAVARTI, ARAVINDA, MEYERS, DEBORAH A., KAZAZIAN, HAIG H. (1985) Linkage Map on Chromosome 21q and the Association of a DNA Haplotype with a Propensity to Nondisjunction and Trisomy 21. Annals of the New York Academy of Sciences, 450 (1) 95-107 doi:10.1111/j.1749-6632.1985.tb21486.x
Long, Jeffrey C., Chakravarti, Aravinda, Boehm, Corinne D., Antonarakis, Stylianos, Kazazian, Haig H. (1990) Phylogeny of human β-globin haplotypes and its implications for recent human evolution. American Journal of Physical Anthropology, 81 (1) 113-130 doi:10.1002/ajpa.1330810112
 
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