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Results: 1-3 |
Results: 3
Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms
Authors: Lux, A Gallione, CJ Marchuk, DA
Citation: A. Lux et al., Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms, HUM MOL GEN, 9(5), 2000, pp. 745-755
Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect
Authors: Gallione, CJ Scheessele, EA Reinhardt, D Duits, AJ Berg, JN Westermann, CJJ Marchuk, DA
Citation: Cj. Gallione et al., Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect, HUM GENET, 107(1), 2000, pp. 40-44
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)
Authors: Sahoo, T Johnson, EW Thomas, JW Kuehl, PM Jones, TL Dokken, CG Touchman, JW Gallione, CJ Lee-Lin, SQ Kosofsky, B Kurth, JH Louis, DN Mettler, G Morrison, L Gil-Nagel, A Rich, SS Zabramski, JM Boguski, MS Green, ED Marchuk, DA
Citation: T. Sahoo et al., Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1), HUM MOL GEN, 8(12), 1999, pp. 2325-2333
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