Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia

Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia

Bibliographic Details
Main Authors: Hui Yan, Jian-Hui Qiu, Yi-Nan Ma, Yang Xiao, Jun-Bao Du, Li-Shao Guo
Format: Article
Language:English
Published: Wolters Kluwer 2021-04-01
Series:Chinese Medical Journal
Online Access:http://journals.lww.com/10.1097/CM9.0000000000001224
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spelling doaj-63a8c2ce038d4b009297848acc1128ba2021-04-26T05:11:41ZengWolters KluwerChinese Medical Journal0366-69992542-56412021-04-01134784084110.1097/CM9.0000000000001224202104050-00012Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemiaHui YanJian-Hui QiuYi-Nan MaYang XiaoJun-Bao DuLi-Shao Guohttp://journals.lww.com/10.1097/CM9.0000000000001224
collection DOAJ
language English
format Article
sources DOAJ
author Hui Yan
Jian-Hui Qiu
Yi-Nan Ma
Yang Xiao
Jun-Bao Du
Li-Shao Guo
spellingShingle Hui Yan
Jian-Hui Qiu
Yi-Nan Ma
Yang Xiao
Jun-Bao Du
Li-Shao Guo
Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia
Chinese Medical Journal
author_facet Hui Yan
Jian-Hui Qiu
Yi-Nan Ma
Yang Xiao
Jun-Bao Du
Li-Shao Guo
author_sort Hui Yan
title Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia
title_short Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia
title_full Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia
title_fullStr Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia
title_full_unstemmed Next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia
title_sort next-generation sequencing verified by multiplex ligation-dependent probe amplification to detect a new copy number variations in a child with heterozygous familial hypercholesterolemia
publisher Wolters Kluwer
series Chinese Medical Journal
issn 0366-6999
2542-5641
publishDate 2021-04-01
url http://journals.lww.com/10.1097/CM9.0000000000001224
work_keys_str_mv AT huiyan nextgenerationsequencingverifiedbymultiplexligationdependentprobeamplificationtodetectanewcopynumbervariationsinachildwithheterozygousfamilialhypercholesterolemia
AT jianhuiqiu nextgenerationsequencingverifiedbymultiplexligationdependentprobeamplificationtodetectanewcopynumbervariationsinachildwithheterozygousfamilialhypercholesterolemia
AT yinanma nextgenerationsequencingverifiedbymultiplexligationdependentprobeamplificationtodetectanewcopynumbervariationsinachildwithheterozygousfamilialhypercholesterolemia
AT yangxiao nextgenerationsequencingverifiedbymultiplexligationdependentprobeamplificationtodetectanewcopynumbervariationsinachildwithheterozygousfamilialhypercholesterolemia
AT junbaodu nextgenerationsequencingverifiedbymultiplexligationdependentprobeamplificationtodetectanewcopynumbervariationsinachildwithheterozygousfamilialhypercholesterolemia
AT lishaoguo nextgenerationsequencingverifiedbymultiplexligationdependentprobeamplificationtodetectanewcopynumbervariationsinachildwithheterozygousfamilialhypercholesterolemia
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