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MeSH:(RNA Splice Sites/genetics*)

1.A novel splicing acceptor variant of the FBN2 gene contributes to a case of congenital contractural arachnodactyly.

Xiaolan TAN ; Xiangyou LENG ; Dachang TAO ; Yuan YANG ; Yunqiang LIU

Chinese Journal of Medical Genetics 2022;39(5):522-525

3.Analysis of a multiple osteochondroma case caused by novel splice mutation (c.1164+1G to A) of EXT1 gene.

Xiaoyan GUO ; Wenxu CHEN ; Mingrui LIN ; Tengfei SHI ; Dianhua HUANG ; Zhihong WANG

Chinese Journal of Medical Genetics 2017;34(3):411-415

4.Alternatively spliced variants of constitutive androstane receptor in liver of mouse.

Hong-Ying SUN ; Jing CHEN ; Kai JIANG ; Shu-Qing CHEN

Journal of Zhejiang University. Medical sciences 2008;37(2):113-117

5.A novel mutation in β-globin gene of a patient with β-thalassemia.

Yun-Sheng PENG ; Shun-Chang SUN ; Qun-Rong CHEN ; Qing WANG ; Bao-Mei MO

Journal of Experimental Hematology 2012;20(2):398-400

6.Exploration of the alternative splicing variants of rat phospholipase C-gamma 1 pre-mRNA.

Zhong-Ying LIU ; Shen-Qiu LUO ; Yong-Zhong ZHAO

Journal of Southern Medical University 2007;27(2):191-194

7.Pseudouridines in spliceosomal snRNAs.

Andrew T YU ; Junhui GE ; Yi-Tao YU

Protein & Cell 2011;2(9):712-725

8.Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.

Hong-wei MA ; Jun JIANG ; Jun-feng LU ; Ran GUO ; Guo-hui NIU

Chinese Journal of Medical Genetics 2005;22(3):251-253

9.A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis.

Hwa Jeen LEE ; Seungman PARK ; Hyoung Jin KANG ; Jong Kwan JUN ; Jung Ae LEE ; Dong Soon LEE ; Sung Sup PARK ; Moon Woo SEONG

Annals of Laboratory Medicine 2012;32(5):380-384

10.Molecular Characterization of the NF2 Gene in Korean Patients with Neurofibromatosis Type 2: A Report of Four Novel Mutations.

Moon Woo SEONG ; Im Kyung YEO ; Sung Im CHO ; Chul Kee PARK ; Seung Ki KIM ; Sun Ha PAEK ; Dong Gyu KIM ; Hee Won JUNG ; Hyunwoong PARK ; So Yeon KIM ; Ji Yeon KIM ; Sung Sup PARK

The Korean Journal of Laboratory Medicine 2010;30(2):190-194

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