5 results for author:"Abuelo D." in Literature citations
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| Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hucthagowder V., Morava E., Kornak U., Lefeber D.J., Fischer B., Dimopoulou A., Aldinger A., Choi J., Davis E.C., Abuelo D.N. et al. Hum. Mol. Genet. 18:2149-2165(2009) · Mapped (3) |
| Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Guo D.-C., Pannu H., Tran-Fadulu V., Papke C.L., Yu R.K., Avidan N., Bourgeois S., Estrera A.L., Safi H.J., Sparks E. et al. |
| Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Sagen J.V., Raeder H., Hathout E., Shehadeh N., Gudmundsson K., Baevre H., Abuelo D., Phornphutkul C., Molnes J., Bell G.I. et al. |
| Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Kato M., Das S., Petras K., Kitamura K., Morohashi K., Abuelo D.N., Barr M., Bonneau D., Brady A.F., Carpenter N.J. et al. Hum. Mutat. 23:147-159(2004) · UniProtKB (1) |
| Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Gencic S., Abuelo D., Ambler M., Hudson L.D. Am. J. Hum. Genet. 45:435-442(1989) · UniProtKB (1) |