American Journal of Human Genetics 1998 Xavier Estivill - Abstracts
| American Journal of Human Genetics 1998 Xavier Estivill | |||||
| Title | Subject | Authors | |||
|---|---|---|---|---|---|
| A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 (ital) gene. | Biological sciences | Xavier Estivill, Jordi Rosell, Eduard Serra, Conxi Lazaro, Elisabet Ars, Helena Kruyer, Antonia Gaona, Pilar Casquero, Victor Volpini | |||
| Dating the origin of the CCR5-delta32 (ital) AIDS-resistance allele by the coalescence of haplotypes. | Biological sciences | Mary Carrington, Stephen J. O'Brien, Cheryl Winkler, David Goldman, David E. Reich, David Chandler, Michael Dean, Bernard Gerrard, Xavier Estivill, David B. Goldstein, Michael W. Smith, Paolo Gasparini, David Duffy, Carole Oddoux, Harry Ostrer, Susanne Morlot, Gordon Duff, Gavin A. Huttley, Nick Martin, Mireille Claustres, Damjan Glavac, J. Claiborne Stephens, Hyoung Doo Shin, Rando Allikmets, Lynn Shriml, Michael Malasky, Maria D. Ramos, Maria Tzetis, Francesco S. de Giovine, Georgios Nasioulas, Michael Aseev, E. Kanavakis, Marios Kambouris, Vladislav Baranov, Hiljar Sibul, Andres Metspalu, Jorg Schmidtke, Matthew Hanson, Luba Kalaydjieva | |||
| Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. | Biological sciences | Leila D'Urbano, Massimo Zeviani, Xavier Estivill, Antonio Torroni, Rosaria Scozzari, Nancy Govea, Anna Barcelo, Enric Perello, Celia Badenas, Enrique Romero, Luis Moral | |||
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