نتایج جستجو برای: multiplex ligation dependentprobe amplification
تعداد نتایج: 97340 فیلتر نتایج به سال:
mutations in the dystrophin gene cause duchenne muscular dystrophy (dmd), the most commonly inherited neuromuscular disorder, and becker muscular dystrophy (bmd), the milder allelic form of the disease. the mutation spectrum within this gene is unusual in that deletion of one or more exons are found in ~65% of cases. since no effective treatment is so far available for these diseases, the ident...
OBJECTIVES Immunohistochemistry for DNA mismatch repair proteins is used to screen for Lynch syndrome in individuals with colorectal carcinoma (CRC). Although solitary loss of PMS2 expression is indicative of carrying a germline mutation in PMS2, previous studies reported MLH1 mutation in some cases. We determined the prevalence of MLH1 germline mutations in a large cohort of individuals with a...
BACKGROUND Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal disease characterized by tubular disorders at the thick ascending limb of Henle's loop. It is caused by mutations in the tight junction structural proteins claudin-16 or claudin-19, which are encoded by the CLDN16 and CLDN19 genes, respectively. Patients exhibit excessive wasting of c...
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