Spinal muscular atrophy genetic testing experience at an academic medical center.
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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimensPrevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.Molecular Genetic Analysis of Survival Motor Neuron Gene in 460 Turkish Cases with Suspicious Spinal Muscular Atrophy Disease.SMA carrier testing: a meta-analysis of differences in test performance by ethnic group.Review of Spinal Muscular Atrophy (SMA) for Prenatal and Pediatric Genetic Counselors.Quantification of PCR bias caused by a single nucleotide polymorphism in SMN gene dosage analysis.Establishment of a molecular diagnostic system for spinal muscular atrophy experience from a clinical laboratory in china.Differences in SMN1 allele frequencies among ethnic groups within North America.SMN dosage analysis and risk assessment for spinal muscular atrophy.An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients.Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population.What Matters Most: A Perspective From Adult Spinal Muscular Atrophy Patients.Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1.Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
P2860
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P2860
Spinal muscular atrophy genetic testing experience at an academic medical center.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
Spinal muscular atrophy genetic testing experience at an academic medical center.
@ast
Spinal muscular atrophy genetic testing experience at an academic medical center.
@en
type
label
Spinal muscular atrophy genetic testing experience at an academic medical center.
@ast
Spinal muscular atrophy genetic testing experience at an academic medical center.
@en
prefLabel
Spinal muscular atrophy genetic testing experience at an academic medical center.
@ast
Spinal muscular atrophy genetic testing experience at an academic medical center.
@en
P2093
P2860
P1476
Spinal muscular atrophy genetic testing experience at an academic medical center
@en
P2093
Debra G B Leonard
Hanna Rennert
Robert B Wilson
P2860
P356
10.1016/S1525-1578(10)60680-0
P50
P577
2002-02-01T00:00:00Z