دانلود مقالات ISI درباره Gnptab + ترجمه فارسی

Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients

Keywords: α; alpha; bp; base pair(s); β; beta; cDNA; DNA complementary to RNA; dNTP; deoxyribonucleoside triphosphate; γ; gamma; GERP; Genomic Evolutionary Rate Profiling; GNPTAB; gene encoding the alpha/beta subunit of the N-acetylglucosamine-1-phosphotransfera

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2018 سفارش ترجمه

Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers

Keywords: ML-ll; Mucolipidosisll; ML-lll; Mucolipidosislll; SSI-3; Stuttering Severity Instrument version-3; ESP; Exome Sequencing Project; ExAC; Exome Aggregation Consortium; PCR; Polymerase Chain Reaction; Non-syndromic stuttering; GNPTAB; GNPTG; NAGPA; Bioinform

دانلود رایگان متن کامل مقاله ISI 33 صفحه سال انتشار : 2018 سفارش ترجمه

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report

Keywords: Mucolipidosis; Prenatal diagnosis; GNPTAB; GlcNAc-1-phosphotransferase; Heterozygote

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2014 سفارش ترجمه

Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma

Keywords: A; adenosine; α; alpha; bp; base pair(s); β; beta; C; cytidine; cDNA; DNA complementary to RNA; dNTP; deoxyribonucleoside triphosphate; G; guanosine; γ; gamma; GlcNAc-1-phosphotransferase; N-acetylglucosamine-1-phosphotransferase; GNPTAB; gene encoding

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

A role for inherited metabolic deficits in persistent developmental stuttering

Keywords: Stuttering; Linkage; Lysosomal targeting pathway; GNPTAB; NAGPA;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

Análisis mutacional de GNPTAB para el diagnóstico molecular de mucolipidosis tipo II (I-cell disease). Descripción de dos nuevas mutaciones sin sentido asociadas con la enfermedad

Keywords: Mucolipidosis tipo II; I-cell disease; N-acetilglucosaminil 1-fosfotransferasa; GNPTAB; Análisis mutacional; Mucolipidosis type II; I-cell disease; N-acetylglucosaminyl; GNPTAB; Mutational analysis;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Mannose phosphorylation in health and disease

Keywords: Mucolipidosis; GNPTG; GNPTAB; Mannose 6-phosphate; Lysosomal enzymes; Lysosomal trafficking disorder; GlcNAc-1-phosphotransferase; Knock-in mouse model

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2010 سفارش ترجمه

An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II

Keywords: Mucolipidosis type II; I-cell disease; GlcNAc-1-phosphotransferase; GNPTAB; Exon skipping; Exonic Alu insertion; Microduplication; Exon enhancers;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2008 سفارش ترجمه