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

Emrah Kaygusuz, Arwa Ishaq A. Khayyat, Uzma Abdullah, Birgit Susanne Budde, Maria Asif, Ilyas Ahmed, Ehtisham Ul Haq Makhdoom, Ilknur Sur-Erdem, Jamshaid Mahmood Baig, Muhammad Mohsin Ali Khan, Mohammad Reza Toliat, Christian Becker, Haseeb Anwar, Maria Iqbal, Sarah Fischer, Muhammad Jameel, Muhammad Sher, Muhammad Tariq, Naveed Altaf Malik, Angelika A. NoegelMuhammad Jawad Hassan, Holger Thiele, Sigrid Tinschert, Ludwig Eichinger, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain

Research output: Contribution to journalLetterpeer-review

1 Citation (Scopus)
Original languageEnglish
Pages (from-to)486-488
Number of pages3
JournalClinical Genetics
Volume100
Issue number4
DOIs
Publication statusPublished - Oct 2021
Externally publishedYes

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