Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome
在克什米尔一个患有巴德-比德尔综合征的家族中鉴定出BBS2基因中的一种新的纯合错义突变（c.443A>T:p.N148I）
期刊:Biomed Research International
影响因子:2.3
doi:10.1155/2021/6626015
Ali, Ghazanfar; Sadia; Foo, Jia Nee; Nasir, Abdul; Chang, Chu-Hua; Chew, Elaine GuoYan; Latif, Zahid; Azeem, Zahid; Ain-Ul-Batool, Syeda; Kazmi, Syed Akif Raza; Awan, Naheed Bashir; Khan, Abdul Hameed; Rehman, Fazal-Ur-; Khalid, Madiha; Wali, Abdul; Sarwar, Samina; Akhtar, Wasim; Ahmed Abbasi, Ansar; Nisar, Rameez
