دانلود مقالات ISI درباره Splice Mutation + ترجمه فارسی

Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells

Keywords: Splice mutation; Cataract; Crystallin gene; Unfolded protein response; Apoptosis;

دانلود رایگان متن کامل مقاله ISI 46 صفحه سال انتشار : 2016 سفارش ترجمه

Unverricht–Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene

Keywords: Cystatin B mutation; Progressive myoclonus epilepsy; Unverricht–Lundborg; Silent mutation; Splice mutation

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2012 سفارش ترجمه

A novel 3′ splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1

Keywords: LAD-I; ITGB2; Fusion gene; Splice mutation

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2011 سفارش ترجمه

Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly

Keywords: Exon trapping; Minigene; SHH; Holoprosencephaly; Splicing; Variant of uncertain significance; Splice mutation; Blood; Fibroblasts; Gene expression

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2011 سفارش ترجمه

cDNA analysis demonstrates that the BRCA2 intronic variant IVS4-12del5 is a deleterious mutation

Keywords: VUSs; variants of unknown significance; ESEs; exon splicing enhancers; SF1; splicing factor 1; U2AF; U2 auxiliary factor; BIC; Breast Cancer Information Core; BRCA2; Splice mutation; Intron; Breast cancer; mRNA;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2009 سفارش ترجمه

Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism

Keywords: Inherited pituitary dwarfism; GHRHR; Linkage and sequence analysis; Splice mutation; In vitro transcription analysis

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2009 سفارش ترجمه

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency

Keywords: Carnitine-acylcarnitine carrier; Mitochondrial fatty acid oxidation; Prenatal diagnosis; Post-mortem diagnosis; Mutation analysis; Splice mutation; Carnitine/metabolism; Newborn

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2006 سفارش ترجمه

Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA

Keywords: Pelizaeus-Merzbacher disease; PLP1 gene; splice mutation; CT; computed tomography; ER; endoplasmatic reticulum; MRI; magnetic resonance imaging; PLP1; proteolipid protein gene; PMD; Pelizaeus-Merzbacher disease; SPG; spastic paraplegia; SSCP; single stran

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2005 سفارش ترجمه