scholarly journals A novel aberrant splice site mutation in the APC gene

2002 ◽  
Vol 39 (10) ◽  
pp. 754-757 ◽  
Author(s):  
G S Charames
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Apc Gene ◽  
Aberrant Splice ◽  
Site Mutation

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss

2017 ◽  
Vol 173 (5) ◽  
pp. 1257-1263 ◽  
Author(s):  
Nesrin Gariballa ◽  
Afif Ben-Mahmoud ◽  
Makanko Komara ◽  
Aisha M. Al-Shamsi ◽  
Anne John ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Aberrant Splice ◽  
Site Mutation

A Splice-Site Mutation in Exon 4 of the APC Gene in a Family with Attenuated Familial Adenomatous Polyposis

2007 ◽  
Vol 52 (10) ◽  
pp. 2784-2787 ◽  
Author(s):  
Seamus J. Murphy ◽  
Brian McIlhatton ◽  
W. Peter Logan ◽  
Kenneth G. Porter ◽  
Patrick J. Morrison
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Apc Gene ◽  
Adenomatous Polyposis ◽  
Site Mutation ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Exon 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
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