scholarly journals An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient

2003 ◽  
Vol 12 (2) ◽  
pp. 150-154 ◽  
Author(s):  
Stefano Regis ◽  
Fabio Corsolini ◽  
Verena Ricci ◽  
Marco Di Duca ◽  
Mirella Filocamo
Keyword(s):  
Splice Site ◽  
Metachromatic Leukodystrophy ◽  
Splice Site Mutation ◽  
Arylsulfatase A ◽  
Site Mutation ◽  
Pseudodeficiency Allele

Metachromatic leukodystrophy in the Navajo Indian population: A splice site mutation in intron 4 of the arylsulfatase a gene

1994 ◽  
Vol 4 (3) ◽  
pp. 199-207 ◽  
Author(s):  
N. M. Pastor-Soler ◽  
M. A. Rafi ◽  
J. D. Hoffman ◽  
D. Hu ◽  
D. A. Wenger
Keyword(s):  
Splice Site ◽  
Indian Population ◽  
Metachromatic Leukodystrophy ◽  
Splice Site Mutation ◽  
Arylsulfatase A ◽  
Site Mutation ◽  
Intron 4

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

An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis

2014 ◽  
Vol 27 (9-10) ◽  
Author(s):  
Hakan Cangul ◽  
Halil Saglam ◽  
Yaman Saglam ◽  
Erdal Eren ◽  
Durmus Dogan ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Thyroid Dysgenesis ◽  
Tshr Gene

scholarly journals A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers

2016 ◽  
Vol 175 (5) ◽  
pp. 727-733 ◽  
Author(s):  
Marie Helene Schernthaner-Reiter ◽  
David Adams ◽  
Giampaolo Trivellin ◽  
Mary Scott Ramnitz ◽  
Margarita Raygada ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Splice Site ◽  
Nephrogenic Diabetes Insipidus ◽  
Splice Site Mutation ◽  
Site Mutation
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