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Two Novel Missense Tbx22 Mutations Frequently Cause Non-Syndromic Cleft Palate in Pakistani Population

Two Novel Missense Tbx22 Mutations Frequently Cause Non-Syndromic Cleft Palate in Pakistani Population

Asma Basharat1, Abdul Wajid2*, Andleeb Batool1, Tayyeba Batool3, Abdul Basit4, Kamran Abbas5, Aziz Ullah1 and Mahmood Shaukat6

1Department of Zoology, Government College University, Lahore
2Department of Biotechnology, Faculty of Life Sciences and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta
3Department of Biotechnology, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta 
4School of Biological Sciences, University of the Punjab, Lahore
5Department of Biotechnology, Virtual University of Pakistan, 1-Davis Road, Lahore
6Allama Iqbal Medical College, Lahore
 
Asma Basharat and Abdul Wajid contributed equally to this article.
 
* Corresponding author: abdul.wajid@vu.edu.pk

Fig. 1.

Chromatogram of a novel mutation A) C→A (P180Q) in the TBX22 gene, upper sequences of amino acids of unaffected individual and the lower of affected individual B) Patient images during surgery, C) G→T (S328I) in the TBX22 gene, the upper sequence belong to unaffected individual and below of affected individual.

Fig. 2.

Location of the novel missense substitutions, P180Q and S328I (red arrow), in the TBX22 gene.

Pakistan Journal of Zoology

February

Vol. 55, Iss. 1, Pages 1-500

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