Determination of SMN1 and SMN2 copy number using TaqMan technology.
about
Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort studyDetermination of cytochrome P450 2D6 (CYP2D6) gene copy number by real-time quantitative PCR.Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesSpinal muscular atrophy: from gene discovery to clinical trialsPan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimensQuantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCRPrevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and IIIMolecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALSFrequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study.Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project.Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCRAllelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.Perspectives and diagnostic considerations in spinal muscular atrophy.SMA carrier testing: a meta-analysis of differences in test performance by ethnic group.Multiplex digital PCR: breaking the one target per color barrier of quantitative PCR.Quantitative analysis of copy number variants based on real-time LightCycler PCR.Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.Clinical utility gene card for: proximal spinal muscular atrophy.Differences in SMN1 allele frequencies among ethnic groups within North America.An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.An efficient method for measuring copy number variation applied to improvement of nematode resistance in soybean.Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper.Persistence of bone marrow micrometastases in patients receiving adjuvant therapy for breast cancer: results at 4 years.
P2860
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P2860
Determination of SMN1 and SMN2 copy number using TaqMan technology.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
@zh
2003年论文
@zh-cn
name
Determination of SMN1 and SMN2 copy number using TaqMan technology.
@en
type
label
Determination of SMN1 and SMN2 copy number using TaqMan technology.
@en
prefLabel
Determination of SMN1 and SMN2 copy number using TaqMan technology.
@en
P2093
P2860
P356
P1433
P1476
Determination of SMN1 and SMN2 copy number using TaqMan technology.
@en
P2093
Dirk Anhuf
Klaus Zerres
Sabine Rudnik-Schöneborn
Thomas Eggermann
P2860
P356
10.1002/HUMU.10221
P577
2003-07-01T00:00:00Z