Browsing by Subject "mutation"

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Common MEFV Mutations in Palestinian Patients with Familial Mediterranean Fever

Ashour, Mohammed J.; Sharif, Fadel A. (Science Publishing Group, 2015)

Familial Mediterranean fever (FMF) is an autosomal recessive inflammatory disorder caused by mutations in the MEFV gene that encodes the pyrin protein. The disease is relatively common among people originating from the ...
Non-Syndromic autosomal recessive deafness in Gaza strip: A study of five GJB2 Gene mutations

Essammak, Badria F; Ashour, Mohammed J.; Sharif, Fadel A. (2014)

Hearing loss is a common, pan-ethnic and highly heterogeneous sensory disorder with an incidence of around 1 in 1000 infants. Genetic causes are thought to be responsible for more than 60% of the cases with the majority ...