Author/Authors :
Mohammad-Mahdi Motazacker، نويسنده , , Elahe Taherzadeh-Fard، نويسنده , , Zohreh Husseini، نويسنده , , Farkhondeh Behjati، نويسنده , , Fatemehsadat Esteghamat، نويسنده , , Kimia Kahrizi، نويسنده , , Hossein Najmabadi، نويسنده ,
Abstract :
More than 20 years have elapsed since the first single base pair substitution underlying an inherited disease in humans was characterized at the DNA level. Disease-associated gene lesions are currently collected and publicized by the Human Gene Mutation Database (HGMD) in Cardiff, locusspecific mutation databases, and to some extent by the Genome Database (GDB) and Online Mendelian Inheritance in Man (OMIM) as comprehensive and up-to-date resources for information on genetic disorders and mutations causing them.