Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing

2019 ◽  
Vol 23 (6) ◽  
pp. 428-432 ◽  
Author(s):  
Noreen Karim ◽  
Aman Ullah ◽  
Ghulam Murtaza ◽  
Muhammad Naeem
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Study ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Pakistani Family ◽  
Molecular Genetic Study ◽  
Congenital Ichthyosis ◽  
Whole Exome ◽  
Autosomal Recessive Congenital Ichthyosis

scholarly journals Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease

2012 ◽  
Vol 11 (4) ◽  
pp. 4342-4350 ◽  
Author(s):  
M. Oldani ◽  
S. Marchi ◽  
A. Giani ◽  
S. Cecchin ◽  
E. Rigoni ◽  
...  
Keyword(s):  
Genetic Study ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Stargardt Disease ◽  
Molecular Genetic Study

scholarly journals Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family

Seizure ◽  
2017 ◽  
Vol 51 ◽  
pp. 200-203
Author(s):  
Zain Aslam ◽  
Eungi Lee ◽  
Mazhar Badshah ◽  
Muhammad Naeem ◽  
Changsoo Kang
Keyword(s):  
Exome Sequencing ◽  
Missense Mutation ◽  
Whole Exome Sequencing ◽  
Pakistani Family ◽  
Lafora Disease ◽  
Whole Exome

scholarly journals Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa

2017 ◽  
Vol 27 (4) ◽  
pp. 614-624 ◽  
Author(s):  
Monika Weisz Hubshman ◽  
Sanne Broekman ◽  
Erwin van Wijk ◽  
Frans Cremers ◽  
Alaa Abu-Diab ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Novel Gene ◽  
Whole Exome
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