Differences in SMN1 allele frequencies among ethnic groups within North America.
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Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort studyCopy 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 specimensEvaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical studyUtility of survival motor neuron ELISA for spinal muscular atrophy clinical and preclinical analysesNotable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data.Prevalence, 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.Compound muscle action potential and motor function in children with spinal muscular atrophy.VPA response in SMA is suppressed by the fatty acid translocase CD36.Carrier testing for spinal muscular atrophy.Spinal muscular atrophy: diagnosis and management in a new therapeutic eraA common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US HutteritesFrequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study.SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCRNew multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy.A population-based study of autosomal-recessive disease-causing mutations in a founder populationPerspectives and diagnostic considerations in spinal muscular atrophy.The clinical context of copy number variation in the human genome.Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology.Raising obstetricians' awareness of spinal muscular atrophy: towards early detection and reproductive planning.Anesthesia and spinal muscle atrophy.SMA carrier testing: a meta-analysis of differences in test performance by ethnic group.Commentary for Special Issue of Prevention Science "Using Genetics in Prevention: Science Fiction or Science Fact?"A Review on Spinal Muscular Atrophy: Awareness, Knowledge, and Attitudes.Genome Editing of Monogenic Neuromuscular Diseases: A Systematic Review.The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.Ten years of experience in molecular prenatal diagnosis and carrier testing for spinal muscular atrophy among families from Serbia.Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States.Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting.Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy.Carrier screening for spinal muscular atrophy in Italian populationSpinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history
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P2860
Differences in SMN1 allele frequencies among ethnic groups within North America.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Differences in SMN1 allele frequencies among ethnic groups within North America.
@en
Differences in SMN1 allele frequencies among ethnic groups within North America.
@nl
type
label
Differences in SMN1 allele frequencies among ethnic groups within North America.
@en
Differences in SMN1 allele frequencies among ethnic groups within North America.
@nl
prefLabel
Differences in SMN1 allele frequencies among ethnic groups within North America.
@en
Differences in SMN1 allele frequencies among ethnic groups within North America.
@nl
P2093
P2860
P356
P1476
Differences in SMN1 allele frequencies among ethnic groups within North America.
@en
P2093
B C Hendrickson
E A Sugarman
E M Rohlfs
L Boguslavskiy
P Labrousse
P2860
P304
P356
10.1136/JMG.2009.066969
P407
P577
2009-07-21T00:00:00Z