Preconception or prenatal acceptance of SMN1 gene carrier screening and carrier rate of spinal muscular atrophy: a retrospective study in 18,818 reproductive age women in Wuhan area of China-Reference-Cited by-同舟云学术

Preconception or prenatal acceptance of SMN1 gene carrier screening and carrier rate of spinal muscular atrophy: a retrospective study in 18,818 reproductive age women in Wuhan area of China

Published:2023-11-22 Issue:1 Volume:41 Page:127-133
ISSN:1058-0468
Container-title:Journal of Assisted Reproduction and Genetics
language:en
Short-container-title:J Assist Reprod Genet

Author:

Sun Yanan,Ma Songyan,Xiao Juan,Wu Jianli,Wu Yuanyuan,Shi Xinwei,Li Shufang,Feng Ling,Chen Suhua^ORCID

Funder

National Natural Science Foundation of China

National Major Science and Technology Projects of China

Key Technologies Research and Development Program

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Developmental Biology,Obstetrics and Gynecology,Genetics,Reproductive Medicine,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10815-023-02991-w.pdf

Reference27 articles.

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2. Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Bénichou B, Zeviani M, Le Paslier D, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science. 1994;264(5164):1474–7.

3. Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA. 1999;96(11):6307–11.

4. Chaytow H, Huang YT, Gillingwater TH, Faller KME. The role of survival motor neuron protein (SMN) in protein homeostasis. Cell Mol Life Sci. 2018;75(21):3877–94.

5. Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet. 2002;70(2):358–68.

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