Sajida Rasool1, Saba Irshad1*, Neelam Saba1, Mehak Fiaz1Muhammad Sajid Hussain2, MuhammadWajid Hussain3 and Peter Nürnberg2

 

...y, dysphagia, no speech, hearing loss and seizures. Genome wide linkage analysis and whole exome sequencing revealed a novel homozygous nonsense mutation (c.204T>G) in BICD2 gene which was predicted to yield a truncated protein product (p. Glu68*). This is first nonsense mutation being reported causing HSP with complex clinical features and early onset. Further, functional exploration will be required for genotype phenotype correlation.
...

Ejaz Ali and Nageen Hussain*

...ne of the main causes of hearing loss in different populations, including Pakistan, that encodes a gap junction protein involved in the homeostasis of the inner ear by recycling potassium ion. This research aimed to find out mutations in the GJB2 gene and its protein structure. Both control and patient samples were collected from Gilgit-Baltistan for DNA isolation and PCR was done by using a specific primer while sequencing was done by Sanger sequencing. Mutat...

Pakistan Journal of Zoology

August

Vol. 54, Iss. 4, Pages 1501-2001

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