scholarly journals A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

Bone Reports ◽  
2021 ◽  
pp. 101110
Author(s):  
Ahmed El-Gazzar ◽  
Johannes A. Mayr ◽  
Barbara Voraberger ◽  
Karin Brugger ◽  
Stéphane Blouin ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Cryptic Splice Site ◽  
Site Mutation

scholarly journals An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Koichi Tabeta ◽  
Xin Du ◽  
Kei Arimatsu ◽  
Mai Yokoji ◽  
Naoki Takahashi ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

scholarly journals Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL 1A2

2016 ◽  
Vol 4 (10) ◽  
pp. 972-978 ◽  
Author(s):  
Anja Lisbeth Frederiksen ◽  
Morten Duno ◽  
Iben B. G. Johnsen ◽  
Morten Frost Nielsen ◽  
Anne Bruun Krøigård
Keyword(s):  
Osteogenesis Imperfecta ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

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
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