scholarly journals A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

2018 ◽  
Vol 27 (3) ◽  
pp. 193-196 ◽  
Author(s):  
Mami Fukuma ◽  
Masaki Takagi ◽  
Tomoyuki Shimazu ◽  
Hoseki Imamura ◽  
Hiroko Yagi ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Familial Case ◽  
Site Mutation ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Tarda

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

scholarly journals A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients

1998 ◽  
Vol 62 (3) ◽  
pp. 203-213 ◽  
Author(s):  
J. M. YOUNG ◽  
M. W. BURLEY ◽  
S. J. JEREMIAH ◽  
D. JEGANATHAN ◽  
R. EKONG ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Tsc1 Gene ◽  
Mutation Screen
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