A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family

2012 ◽  
Vol 39 (5) ◽  
pp. 6197-6201 ◽  
Author(s):  
Rashida Hussain ◽  
Shakeela Daud ◽  
Naseebullah Kakar ◽  
Adeel Ahmad ◽  
Abdul Hameed Baloch ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Canavan Disease ◽  
Pakistani Family

scholarly journals A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

2014 ◽  
Vol 23 (22) ◽  
pp. 5940-5949 ◽  
Author(s):  
Muzammil A. Khan ◽  
Verena M. Rupp ◽  
Meritxell Orpinell ◽  
Muhammad S. Hussain ◽  
Janine Altmüller ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Pakistani Family ◽  
Primary Microcephaly ◽  
Autosomal Recessive Primary Microcephaly

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

A novel missense mutation in theEVCgene underlies Ellis-van Creveld syndrome in a Pakistani family

2010 ◽  
Vol 52 (2) ◽  
pp. 240-246 ◽  
Author(s):  
Umm-e-Kalsoom ◽  
Naveed Wasif ◽  
Muhammad Tariq ◽  
Wasim Ahmad
Keyword(s):  
Missense Mutation ◽  
Pakistani Family ◽  
Ellis Van Creveld Syndrome

Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease

1995 ◽  
Vol 5 (3) ◽  
pp. 269-271 ◽  
Author(s):  
Rajinder Kaul ◽  
Guang P. Gao ◽  
Kimberlee Michals ◽  
Donald T. Whelan ◽  
Simon Levin ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Canavan Disease ◽  
Arab Patient

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease

1993 ◽  
Vol 5 (2) ◽  
pp. 118-123 ◽  
Author(s):  
Rajinder Kaul ◽  
Guang Ping Gao ◽  
Kuppareddi Balamurugan ◽  
Reuben Matalon
Keyword(s):  
Missense Mutation ◽  
Canavan Disease

scholarly journals Missense mutation (I143T) in a Japanese patient with Canavan disease

1998 ◽  
Vol 11 (S1) ◽  
pp. S308-S309 ◽  
Author(s):  
Keiko Kobayashi ◽  
Seiichi Tsujino ◽  
Takanori Ezoe ◽  
Hiroshi Hamaguchi ◽  
Kenji Nihei ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Japanese Patient ◽  
Canavan Disease

scholarly journals Homozygous missense mutation in theLMAN2Lgene segregates with intellectual disability in a large consanguineous Pakistani family

2015 ◽  
Vol 53 (2) ◽  
pp. 138-144 ◽  
Author(s):  
Rafiullah Rafiullah ◽  
Muhammad Aslamkhan ◽  
Nagarajan Paramasivam ◽  
Christian Thiel ◽  
Ghulam Mustafa ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation ◽  
Pakistani Family ◽  
Homozygous Missense Mutation
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