scholarly journals Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.

1992 ◽  
Vol 29 (8) ◽  
pp. 563-567 ◽  
Author(s):  
E C Landels ◽  
P M Green ◽  
I H Ellis ◽  
A H Fensom ◽  
M Bobrow
Keyword(s):  
Splice Site ◽  
High Frequency ◽  
Splice Site Mutation ◽  
British Isles ◽  
Site Mutation ◽  
Tay Sachs Disease

Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection

1994 ◽  
Vol 94 (3) ◽  
pp. 279-282 ◽  
Author(s):  
Frida E. Kleiman ◽  
Raquel Dodelson de Kremer ◽  
Ana Oller de Ramirez ◽  
Roy A. Gravel ◽  
Carlos E. Argaraña
Keyword(s):  
Splice Site ◽  
High Frequency ◽  
Splice Site Mutation ◽  
Sandhoff Disease ◽  
Site Mutation ◽  
Heterozygote Detection ◽  
Hexb Gene

Donor splice site mutation in intron 5 of theHEXA gene in a Turkish infant with Tay-Sachs disease

1995 ◽  
Vol 5 (2) ◽  
pp. 186-187 ◽  
Author(s):  
H. A. Özkara ◽  
B. R. Akerman ◽  
G. Ciliv ◽  
M. Topçu ◽  
Y. Renda ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Donor Splice ◽  
Tay Sachs Disease

High frequency of splice site mutation in 21-hydroxylase deficiency children

2014 ◽  
Vol 38 (5) ◽  
pp. 505-511 ◽  
Author(s):  
S. Sharaf ◽  
M. Hafez ◽  
D. ElAbd ◽  
A. Ismail ◽  
G. Thabet ◽  
...  
Keyword(s):  
Splice Site ◽  
High Frequency ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

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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