Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene-Reference-Cited by-同舟云学术

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene

Published:2019-07-11 Issue:8 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Muzammal Muhammad¹,Zubair Muhammad¹,Bierbaumer Sophie²,Blatterer Jasmin²,Graf Ricarda²,Gul Aisha¹,Abbas Safdar¹,Badar Muhammad¹,Abbasi Ansar Ahmad³,Khan Muzammil Ahmad¹^ORCID,Windpassinger Christian²

Affiliation:

1. Gomal Centre of Biochemistry and Biotechnology Gomal University Dera Ismail Khan Pakistan

2. Institute of Human Genetics Medical University of Graz Graz Austria

3. Department of Zoology Mirpur University of Science and Technology (MUST) Mirpur Pakistan

Funder

Higher Education Commission, Pakistan

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.834