Mutations in βB3-Crystallin Associated with Autosomal Recessive Cataract in Two Pakistani Families

2005 ◽  
Vol 46 (6) ◽  
pp. 2100 ◽  
Author(s):  
S. Amer Riazuddin ◽  
Afshan Yasmeen ◽  
Wenliang Yao ◽  
Yuri V. Sergeev ◽  
Qingjiong Zhang ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Pakistani Families

Biallelic mutations in the LPAR 6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families

2019 ◽  
Vol 58 (8) ◽  
pp. 946-952 ◽  
Author(s):  
Ghulam M. Khan ◽  
Noor Hassan ◽  
Niamatullah Khan ◽  
Muhammad Humayun ◽  
Kafaitullah Khan ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Biallelic Mutations ◽  
Pakistani Families

Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly

2009 ◽  
Vol 25 (6) ◽  
pp. 715-720 ◽  
Author(s):  
Rizwana Kousar ◽  
Hira Nawaz ◽  
Maryam Khurshid ◽  
Ghazanfer Ali ◽  
Saad Ullah Khan ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Primary Microcephaly ◽  
Autosomal Recessive Primary Microcephaly ◽  
Pakistani Families

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene

Neurogenetics ◽  
2006 ◽  
Vol 7 (2) ◽  
pp. 105-110 ◽  
Author(s):  
Asma Gul ◽  
Muhammad Jawad Hassan ◽  
Saqib Mahmood ◽  
Wenje Chen ◽  
Safa Rahmani ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Sequence Variants ◽  
Primary Microcephaly ◽  
Genetic Studies ◽  
Autosomal Recessive Primary Microcephaly ◽  
Pakistani Families

Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins

2006 ◽  
Vol 298 (3) ◽  
pp. 135-137 ◽  
Author(s):  
Peter John ◽  
Muhammad Tariq ◽  
Muhammad Arshad Rafiq ◽  
Muhammad Amin-ud-din ◽  
Dost Muhammad ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Deletion Mutation ◽  
Intragenic Deletion ◽  
Pakistani Families

scholarly journals A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis

2004 ◽  
Vol 123 (1) ◽  
pp. 247-248 ◽  
Author(s):  
Muhammad Arshad Rafiq ◽  
Muhammad Ansar ◽  
Saqib Mahmood ◽  
Sayedul Haque ◽  
Muhammad Faiyaz-ul-Haque ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Deletion Mutation ◽  
Intragenic Deletion ◽  
Pakistani Families

scholarly journals Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

BMC Neurology ◽  
2011 ◽  
Vol 11 (1) ◽  
Author(s):  
Rizwana Kousar ◽  
Muhammad Jawad Hassan ◽  
Bushra Khan ◽  
Sulman Basit ◽  
Saqib Mahmood ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Primary Microcephaly ◽  
Autosomal Recessive Primary Microcephaly ◽  
Pakistani Families

scholarly journals Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families

2007 ◽  
Vol 53 (2) ◽  
pp. 101-105 ◽  
Author(s):  
Muhammad S. Chishti ◽  
Attya Bhatti ◽  
Sana Tamim ◽  
Kwanghyuk Lee ◽  
Merry-Lynn McDonald ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Pakistani Families
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