Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder

2014 ◽  
Vol 133 (11) ◽  
pp. 1419-1429 ◽  
Author(s):  
Iltaf Ahmed ◽  
Kirti Mittal ◽  
Taimoor I. Sheikh ◽  
Nasim Vasli ◽  
Muhammad Arshad Rafiq ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Light Chain ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Consanguineous Family ◽  
Site Mutation ◽  
Mirror Movement

A novel splice site mutation in gene C2orf37 underlying Woodhouse–Sakati syndrome (WSS) in a consanguineous family of Pakistani origin

Gene ◽  
2011 ◽  
Vol 490 (1-2) ◽  
pp. 26-31 ◽  
Author(s):  
Rabia Habib ◽  
Sulman Basit ◽  
Saadullah Khan ◽  
Muhammad Nasim Khan ◽  
Wasim Ahmad
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Consanguineous Family ◽  
Site Mutation ◽  
Pakistani Origin

An M1AP homozygous splice‐site mutation associated with severe oligozoospermia in a consanguineous family

2020 ◽  
Vol 97 (5) ◽  
pp. 741-746
Author(s):  
Chaofeng Tu ◽  
Ying Wang ◽  
Hongchuan Nie ◽  
Lanlan Meng ◽  
Weili Wang ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Consanguineous Family ◽  
Site Mutation ◽  
Severe Oligozoospermia

A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis

2005 ◽  
Vol 14 (12) ◽  
pp. 891-897 ◽  
Author(s):  
Liran Horev ◽  
Tamara Potikha ◽  
Sharon Ayalon ◽  
Vered Molho-Pessach ◽  
Arieh Ingber ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Consanguineous Family ◽  
Site Mutation ◽  
Lipoid Proteinosis
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