scholarly journals Specify SDH Complex Mutation

2020 ◽  
Author(s):  
Keyword(s):  
Complex Mutation

scholarly journals A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome

2009 ◽  
Vol 55 (1) ◽  
pp. 37-41 ◽  
Author(s):  
Sheron Perera ◽  
Lily Ramyar ◽  
Angie Mitri ◽  
Aaron Pollett ◽  
Steven Gallinger ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Complex Mutation ◽  
Novel Complex

scholarly journals Mutplot: An easy-to-use online tool for plotting complex mutation data with flexibility

PLoS ONE ◽  
2019 ◽  
Vol 14 (5) ◽  
pp. e0215838 ◽  
Author(s):  
Weiwei Zhang ◽  
Cheng Wang ◽  
Xuan Zhang
Keyword(s):  
Online Tool ◽  
Complex Mutation ◽  
Mutation Data

scholarly journals The lavender plumage colour in Japanese quail is associated with a complex mutation in the region of MLPH that is related to differences in growth, feed consumption and body temperature

BMC Genomics ◽  
2012 ◽  
Vol 13 (1) ◽  
pp. 442 ◽  
Author(s):  
Bertrand Bed’hom ◽  
Mohsen Vaez ◽  
Jean-Luc Coville ◽  
David Gourichon ◽  
Olivier Chastel ◽  
...  
Keyword(s):  
Body Temperature ◽  
Japanese Quail ◽  
Feed Consumption ◽  
Plumage Colour ◽  
Complex Mutation

A NOVEL COMPLEX MUTATION EVENT IN THE PERIPHERIN/RDS GENE IN A FAMILY WITH RETINAL PATTERN DYSTROPHY

Retina ◽  
2006 ◽  
Vol 26 (8) ◽  
pp. 947-953 ◽  
Author(s):  
BOJAN PAJIC ◽  
MAIKE WEIGELL-WEBER ◽  
ISAAK SCHIPPER ◽  
CHRISTOPH KRYENBüHL ◽  
ERNST R. BüCHI ◽  
...  
Keyword(s):  
Pattern Dystrophy ◽  
Complex Mutation ◽  
Novel Complex ◽  
Mutation Event

Functional characterisation of a complex mutation in the α(1,4)galactosyltransferase gene in Taiwanese individuals with p phenotype

2010 ◽  
Vol 21 (2) ◽  
pp. 84-89 ◽  
Author(s):  
Y.-C. Wang ◽  
C.-F. Chang ◽  
H.-C. Lin ◽  
K.-S. Lin ◽  
K.-T. Lin ◽  
...  
Keyword(s):  
Functional Characterisation ◽  
Complex Mutation

scholarly journals A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals

2005 ◽  
Vol 51 (2) ◽  
pp. 92-97 ◽  
Author(s):  
Nuria Andreu ◽  
Maricruz García-Rodríguez ◽  
Victor Volpini ◽  
Cecilia Frecha ◽  
Ignacio J. Molina ◽  
...  
Keyword(s):  
Wiskott Aldrich Syndrome ◽  
C Terminus ◽  
Complex Mutation ◽  
Syndrome Protein
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