Article
Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation.
Neurogenetics - 1 May 2008
Rodríguez-Martínez Ana B, Alfonso-Sánchez Miguel A, Peña José A, Sánchez-Valle Raquel, Zerr Inga, Capellari Sabina, Calero Miguel, Zarranz Juan J, de Pancorbo Marian M
Abstract excerpt
This work presents a detailed investigation of the genomic region surrounding the PRNP gene in a sample of patients diagnosed with fatal familial insomnia (FFI) from several European countries, notably Spain. The main focus of the study was to explore the origins of the chromosomes carrying the D178N mutation by designing a single-nucleotide polymorphism (SNP) haplotype around the PRNP gene. Haplotypes were...
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