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A 24‐generation‐old founder mutation impairs splicing ofRBB..:
Kaygusuz, Emrah
;
Khayyat, Arwa Ishaq A.
;
Abdullah, Uzma
...
Clinical Genetics. 100 (2021) 4 - p. 486-488 , 2021
Link:
https://doi.org/10.1111/cge.14028
RT Journal T1
A 24‐generation‐old founder mutation impairs splicing ofRBBP8in Pakistani families affected with Jawad syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.14028&Exemplar=1&LAN=DE A1 Kaygusuz, Emrah A1 Khayyat, Arwa Ishaq A. A1 Abdullah, Uzma A1 Budde, Birgit Susanne A1 Asif, Maria A1 Ahmed, Ilyas A1 Makhdoom, Ehtisham Ul Haq A1 Sur‐Erdem, Ilknur A1 Baig, Jamshaid Mahmood A1 Khan, Muhammad Mohsin Ali A1 Toliat, Mohammad Reza A1 Becker, Christian A1 Anwar, Haseeb A1 Iqbal, Maria A1 Fischer, Sarah A1 Jameel, Muhammad A1 Sher, Muhammad A1 Tariq, Muhammad A1 Malik, Naveed Altaf A1 Noegel, Angelika A. A1 Hassan, Muhammad Jawad A1 Thiele, Holger A1 Tinschert, Sigrid A1 Eichinger, Ludwig A1 Höning, Stefan A1 Baig, Shahid Mahmood A1 Nürnberg, Peter A1 Hussain, Muhammad Sajid PB Wiley YR 2021 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 100 IS 4 SP 486 OP 488 LK http://dx.doi.org/https://doi.org/10.1111/cge.14028 DO https://doi.org/10.1111/cge.14028 SF ELIB - SuUB Bremen
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