A de novo splice site mutation inCASKcauses FG syndrome-4 and congenital nystagmus

2017 ◽  
Vol 173 (3) ◽  
pp. 611-617 ◽  
Author(s):  
P. Dunn ◽  
G. P. Prigatano ◽  
S. Szelinger ◽  
J. Roth ◽  
A. L. Siniard ◽  
...  
Keyword(s):  
Splice Site ◽  
De Novo ◽  
Splice Site Mutation ◽  
Congenital Nystagmus ◽  
Site Mutation

A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

2021 ◽  
Vol 31 (2) ◽  
pp. 267-269
Author(s):  
Ping-Chen Hou ◽  
Wei-Ting Tu ◽  
Peng-Chieh Chen ◽  
Bryan Edgar K. Guevara ◽  
Yu-Fen Yen ◽  
...  
Keyword(s):  
Splice Site ◽  
Epidermolysis Bullosa ◽  
De Novo ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Junctional Epidermolysis Bullosa ◽  
Taiwanese Patient

Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11)

2011 ◽  
Vol 20 (4) ◽  
pp. 222-224 ◽  
Author(s):  
Jolanta Wierzba ◽  
Alina Kuzniacka ◽  
Magdalena Ratajska ◽  
Beata Stefania Lipska ◽  
Iwona Kardas ◽  
...  
Keyword(s):  
Splice Site ◽  
De Novo ◽  
Splice Site Mutation ◽  
Cornelia De Lange Syndrome ◽  
Site Mutation ◽  
Cornelia De Lange

scholarly journals De novo SCN2A splice site mutation in a boy with Autism spectrum disorder

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Teresa Tavassoli ◽  
Alexander Kolevzon ◽  
A Ting Wang ◽  
Jocelyn Curchack-Lichtin ◽  
Danielle Halpern ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Splice Site ◽  
De Novo ◽  
Splice Site Mutation ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Site Mutation

Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation

2018 ◽  
Vol 63 (6) ◽  
pp. 779-781
Author(s):  
Davide Colavito ◽  
Elda Del Giudice ◽  
Chiara Ceccato ◽  
Maurizio Dalle Carbonare ◽  
Alberta Leon ◽  
...  
Keyword(s):  
Splice Site ◽  
De Novo ◽  
Retinal Dystrophy ◽  
Gene Mutations ◽  
Splice Site Mutation ◽  
Site Mutation

scholarly journals A case of cohesinopathy with a novel de-novo SMC1A splice site mutation

2013 ◽  
Vol 22 (4) ◽  
pp. 143-145 ◽  
Author(s):  
Jörg Hansen ◽  
Julia Mohr ◽  
Sarah Bürki ◽  
Johannes R. Lemke
Keyword(s):  
Splice Site ◽  
De Novo ◽  
Splice Site Mutation ◽  
Site Mutation

De novo novel splice‐site mutation in FLT4/VEGFR3 is associated with Milroy disease

2020 ◽  
Vol 48 (1) ◽  
Author(s):  
Yuka Shibata ◽  
Toshio Okamoto ◽  
Takao Saruta ◽  
Fumiya Matsuoka ◽  
Mikiya Fujieda ◽  
...  
Keyword(s):  
Splice Site ◽  
De Novo ◽  
Splice Site Mutation ◽  
Site Mutation

Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus

2009 ◽  
Vol 31 (2) ◽  
pp. 179-182 ◽  
Author(s):  
Akira Kumakura ◽  
Masatoshi Ito ◽  
Daisuke Hata ◽  
Norifumi Oh ◽  
Hirokazu Kurahashi ◽  
...  
Keyword(s):  
Splice Site ◽  
De Novo ◽  
Splice Site Mutation ◽  
Febrile Seizures ◽  
Partial Epilepsy ◽  
Site Mutation ◽  
Febrile Seizures Plus

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
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