GENETIC MAPPING IN A LARGE ITALIAN FAMILY OF A GENE RESPONSIBLE FOR AN AUTOSOMAL DOMINANT DISEASE SHOWING CONGENITAL BILATERAL CATARACT, GASTROESOPHAGEAL REFLUX AND SPASTIC PARAPARSIS WITH AMYOTROPHY
- 2 Anni 1996/1998
- 67.139€ Totale Fondi
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Pubblicazioni Scientifiche
- 1998 NATURE GENETICS
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
- 1999 AMERICAN JOURNAL OF HUMAN GENETICS
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
