Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome

por 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
Publicado 2021