A newborn screening dilemma: when to treat Pompe disease with c.-32-13T>/;G IVS splice site mutation

2017 ◽  
Vol 120 (1-2) ◽  
pp. S24
Author(s):  
Lauren A Bailey ◽  
Mugdha Rairikar ◽  
Ankit Desai ◽  
Zoheb Kazi ◽  
Laura Case ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Splice Site ◽  
Pompe Disease ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
C 32

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

2015 ◽  
Vol 25 (9) ◽  
pp. 719-724 ◽  
Author(s):  
Olimpia Musumeci ◽  
Andrea Thieme ◽  
Kristl G. Claeys ◽  
Stephan Wenninger ◽  
Rudolf A. Kley ◽  
...  
Keyword(s):  
Splice Site ◽  
Pompe Disease ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
The Common ◽  
C 32 ◽  
Gaa Gene

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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