scholarly journals A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Monica Cattaneo ◽  
Lucia La Sala ◽  
Maurizio Rondinelli ◽  
Edoardo Errichiello ◽  
Orsetta Zuffardi ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Wolfram Syndrome ◽  
Donor Splice Site ◽  
Syndrome Type ◽  
Site Mutation ◽  
Donor Splice

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

2010 ◽  
Vol 162 (6) ◽  
pp. 1384-1387 ◽  
Author(s):  
C. Covaciu ◽  
M. Castori ◽  
N. De Luca ◽  
P. Ghirri ◽  
A. Nannipieri ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Donor Splice ◽  
Epidermolytic Ichthyosis

A G+3-to-T Donor Splice Site Mutation Leads to Skipping of Exon 50 in Von Willebrand Factor mRNA

Genomics ◽  
1994 ◽  
Vol 24 (1) ◽  
pp. 190-191 ◽  
Author(s):  
G. Mertes ◽  
M. Ludwig ◽  
B. Finkelnburg ◽  
M. Krawczak ◽  
R. Schwaab ◽  
...  
Keyword(s):  
Von Willebrand Factor ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Donor Splice ◽  
Von Willebrand ◽  
Willebrand Factor

scholarly journals A New SPINK5 Donor Splice Site Mutation in Siblings with Netherton Syndrome

2010 ◽  
Vol 90 (1) ◽  
pp. 95-96 ◽  
Author(s):  
B Tüysüz ◽  
D Ojalvo ◽  
C Mat ◽  
G Zambruno ◽  
C Covaciu ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Netherton Syndrome ◽  
Donor Splice

Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene

Genomics ◽  
1988 ◽  
Vol 2 (1) ◽  
pp. 32-36 ◽  
Author(s):  
Hagop Youssoufian ◽  
Haig H. Kazazian ◽  
Achyut Patel ◽  
Sophia Aronis ◽  
George Tsiftis ◽  
...  
Keyword(s):  
Factor Viii ◽  
Splice Site ◽  
Hemophilia A ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Factor Viii Gene ◽  
Site Mutation ◽  
Donor Splice ◽  
Intron 4

Gonadal Mosaicism of Frasier Syndrome in 3 Chinese Siblings with Donor Splice Site Mutation of Wilms’ Tumour Gene

Nephron ◽  
2002 ◽  
Vol 91 (3) ◽  
pp. 526-529 ◽  
Author(s):  
Wai Leung Chak ◽  
Ka Fai To ◽  
Yuk Lun Cheng ◽  
Kan Ming Tsui ◽  
Kwok Wai Lo ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Wilms Tumour ◽  
Frasier Syndrome ◽  
Site Mutation ◽  
Donor Splice ◽  
Gonadal Mosaicism
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