Pippucci, Tommaso

EX-HOM (EXome HOMozygosity): a proof of principle. [electronic resource] - Human heredity 2011 - 45-53 p. digital

Publication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't

1423-0062

10.1159/000330164 doi


Exons--genetics
Genes, Recessive--genetics
Genetic Association Studies--methods
Genetic Variation
Hereditary Central Nervous System Demyelinating Diseases--genetics
Homozygote
Humans
Italy
Lod Score
Mixed Function Oxygenases--genetics
Paraparesis, Spastic--genetics
Pedigree
Polymorphism, Single Nucleotide--genetics
Sequence Analysis, DNA
Siblings