scholarly journals AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria

2018 ◽  
Vol 4 (5) ◽  
pp. e273 ◽  
Author(s):  
Susana Carmona ◽  
Clara Marecos ◽  
Marta Amorim ◽  
Ana C. Ferreira ◽  
Carla Conceição ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Spastic Paraplegia ◽  
Site Mutation

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

2013 ◽  
Vol 56 (1) ◽  
pp. 43-45 ◽  
Author(s):  
Salma M. Wakil ◽  
Saeed Bohlega ◽  
Samya Hagos ◽  
Batoul Baz ◽  
Haya Al Dossari ◽  
...  
Keyword(s):  
Splice Site ◽  
Hereditary Spastic Paraplegia ◽  
Splice Site Mutation ◽  
Spastic Paraplegia ◽  
Site Mutation ◽  
Saudi Family

scholarly journals Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree

1998 ◽  
Vol 11 (S1) ◽  
pp. S240-S241 ◽  
Author(s):  
Stephan Claes ◽  
Tania Aguirre ◽  
Venancio Simosa ◽  
Tania Bustos ◽  
Rafael Lander ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Spastic Paraplegia ◽  
Site Mutation ◽  
Donor Splice

Emery-Dreifuss Muscular Dystrophy Type 1 in a 15-Year-Old Patient Due to a Novel Putative Splice-Site Mutation

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
O. Schwartz ◽  
J. Althaus ◽  
B. Fiedler ◽  
K. Heß ◽  
W. Paulus ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation

2018 ◽  
Vol 70 (5) ◽  
Author(s):  
Melahat M. Oguz ◽  
Meltem Akcaboy ◽  
Asuman Gurkan ◽  
Esma Altinel Acoglu ◽  
Pelin Zorlu ◽  
...  
Keyword(s):  
Splice Site ◽  
Fever Of Unknown Origin ◽  
Ectodermal Dysplasia ◽  
Splice Site Mutation ◽  
Unknown Origin ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Site Mutation

scholarly journals Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies

2015 ◽  
Vol 133 (5) ◽  
pp. 511 ◽  
Author(s):  
Suma P. Shankar ◽  
David G. Birch ◽  
Richard S. Ruiz ◽  
Dianna K. Hughbanks-Wheaton ◽  
Lori S. Sullivan ◽  
...  
Keyword(s):  
Splice Site ◽  
Founder Effect ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Retinal Dystrophies
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