Clin Genet

A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome

Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Tinschert S, Eichinger L, Höning S, Baig SM, Nürnberg P, Hussain MS.

Clin Genet. 2021 Jul 16. doi: 10.1111/cge.14028.

https://pubmed.ncbi.nlm.nih.gov/34270086/

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