Carrier screening for spinal muscular atrophy with a simple test based on melting analysis-Reference-Cited by-同舟云学术

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Carrier screening for spinal muscular atrophy with a simple test based on melting analysis

Published:2019-02-15 Issue:5 Volume:64 Page:387-396
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Xia Zhongmin,Zhou Yulin,Fu Dongmei,Wang Zengge,Ge Yunsheng,Ren Jun,Guo Qiwei

Funder

Foundation for Young Scholars of Fujian Provincial Department of Health Office

Xiamen Science and Technology Major Project

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0576-6.pdf

Reference30 articles.

1. Minino AM, Xu J, Kochanek KD. Deaths: preliminary data for 2008. Natl Vital Stat Rep. 2010;59:1–52.

2. Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012;20:27–32.

3. Munsat TL, Davies KE. International SMA consortium meeting. (26–28 June 1992, Bonn, Germany). Neuromuscul Disord. 1992;2:423–8.

4. Er TK, Kan TM, Su YF, Liu TC, Chang JG, Hung SY, et al. High-resolution melting (HRM) analysis as a feasible method for detecting spinal muscular atrophy via dried blood spots. Clin Chim Acta. 2012;413:1781–5.

5. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell . 1995;80:155–65.

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3. Evaluating the performance of four assays for carrier screening of spinal muscular atrophy;Clinica Chimica Acta;2023-08

4. Copy number assessment of SMN1 based on real-time PCR with high-resolution melting: fast and highly reliable testing;Brain and Development;2022-08

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