scholarly journals A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency

2017 ◽  
Author(s):  
Carolina Carlosama ◽  
Maëva Elzaiat ◽  
Liliana C. Patiño ◽  
Heidi E. Mateus ◽  
Reiner A. Veitia ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Primary Ovarian Insufficiency ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Ovarian Insufficiency ◽  
Donor Splice ◽  
Meiotic Gene

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
Sign in / Sign up

Export Citation Format

Share Document