نتایج جستجو برای: slc29a3 gene mutation
تعداد نتایج: 1284717 فیلتر نتایج به سال:
Background and Objective: Profound hearing loss is one of the most prevalent congenital disorders affecting about 1 in 1000 newborns. Autosomal recessive non-syndromic hearing loss (ARNSHL) is the predominant form of the severe inherited childhood deafness. This type of hearing loss in one-half of the cases is caused by mutations in GJB2 (connexin 26) and GJB6 (connexin 30) genes located at DFN...
Background and purpose: Beta-thalassemia is an autosomal recessive disease characterized by reduction or complete absence of beta-globin gene expression. This study aimed to find out and determine the spectrum of beta-globin gene mutations and especially rare mutation in beta-carrier couple in Babolsar, north region of Iran. This is very important in perinatal diagnosis of thalassemia. Materia...
background: about 10% of infertilities with obstructive azoospermia are congenital and caused by cf gene mutations. m469i mutation was observed for the first time in taiwanese patients. this mutation not only causes cf, but also may be the origin of infertility too. objective: in this study, we aimed in designing a rapid, reliable rflp-pcr procedure for detection of m469i mutation. the correlat...
Background: Congenital Adrenal Hyperplasia (CAH) is an inherited hereditary autosomal recessive heredity, which is often induced by mutation in the CYP21A2 gene. The aim of this study was to determine the prevalence of cluster exon 6 mutation among patients with CAH deficient in 21-OHD enzyme in Iranian population. Materials and Methods: This is a descriptive study and Blood samples were ...
the androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. the primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. this prevents normal androgen action and thus leads to impaired virilization. a point m...
Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF. Methods: After DNA extractio...
Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most f...
Background and Aim: Molecular basis of Acute Myeloid Leukemia (AML) involves mutations in regulatory genes of cellular proliferation and differentiation.Mutation in tyrosine kinase receptor gene of FLT3 occurs in high frequency in AML, resulting in proliferation and abnormal survival of leukemia cells. Mutations in Internal Tandem Duplication (ITD) and D835 of FLT3 gene are associated with ...
Background : Familial Mediterranean fever (FMF) is an autosomal recessive disease, which is characterized by recurrent short episodes of inflammation in serous membranes. It is most prevalent in Western Mediterranean population. MEFV is the only gene currently known to be associated with this disease. Previous studies revealed that 6% of Iranian Jewish residents in Israel were carriers of MEFV ...
results using these two sets, we identified h1069q mutation in four patients, c.2335t > g mutation in three, c.3061-1g > a splice site mutation in five, c.3305t > c mutation in one, and c.3809a > g mutation in two patients. conclusions the multiplex arms assay used in this study can be an efficient, reliable, and cost effective method as a primary screen for patients with wilson disease. patien...
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