An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

Sandhoff disease is caused by mutations affecting the beta subunit of lysosomal beta-hexosaminidase (EC 3.2.1.52) and displays a wide spectrum of clinical phenotypes. We report a 57-year-old patient with a very mild phenotype, although residual hexosaminidase A activity in his cultured fibroblasts was less than 3% of normal activity, a level observed in juvenile onset patients. Northern and Wes...

an investigation of accuracy and complexity across different proficiency levels in written narrative task

abstract this quasi-experimental study was aimed at examining the impact of storyline complexity on the grammatical accuracy and complexity of advanced and intermediate efl learners. a total of 65 advanced and intermediate efl learners were selected from iran language institute (ili). an intact group including 35 intermediate participants and another intact group with 30 advanced participants ...

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

A Novel Nonsense mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration

Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...

the effect of task cognitive complexity and time limit on the performance of the learners with different proficiency levels in second language writing skill

this study investigated the effects of manipulating the cognitive complexity of tasks along +/- few elements and the time limits on l2 learners writing performance. to conduct the study, 60 iranian efl learners with two levels of proficiency, low and high intermediate, were selected and assigned to three groups based on the time devoted to task completion. the participants performed both a simp...