Faravareh Khordadpoor-Deilamani

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OBJECTIVES To use the PCR-RFLP-based linkage analysis for non-invasive prenatal diagnosis of β-thalassemia. BACKGROUNDS Thalassemia is a prevalent genetic disorder occurring throughout the world. Cell-free fetal DNA (cffDNA) in the maternal plasma during pregnancy has been used to develop non-invasive prenatal screening and diagnostic tests. METHODS(More)
PURPOSE Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented eyes (in patients with ocular albinism) or hair, skin, and eyes (in individuals with oculocutaneous albinism). It is associated with decreased visual acuity, nystagmus, strabismus, and photophobia. The tyrosinase gene is known to be involved in both(More)
Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented hair, skin and eyes. It is associated with decreased visual acuity, nystagmus, strabismus and photophobia. Six genes are known to be involved in nonsyndromic oculocutaneous albinism (OCA). In this study, we aimed to find the disease causing mutations in albinism(More)
Duchenne's muscular dystrophy and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the dystrophin gene. In this project, 100 unrelated male patients were initially screened for deletions in the dystrophin gene by multiplex polymerase chain reaction, of whom 52 were positive. We performed the multiplex(More)
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