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A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome
Journal article   Peer reviewed

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, …
Clinical genetics, Vol.100(4), pp.486-488
10/2021
PMID: 34270086

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