A New Mutation Paradigm for Genetic Programming

2013 ◽  
pp. 45-58
Author(s):  
Christian Darabos ◽  
Mario Giacobini ◽  
Ting Hu ◽  
Jason H. Moore
Keyword(s):  
Genetic Programming ◽  
New Mutation

scholarly journals A NEW MUTATION OPERATOR IN GENETIC PROGRAMMING

2013 ◽  
Vol 03 (02) ◽  
pp. 467-471
Author(s):  
Anuradha Purohit ◽  
◽  
Narendra S. Choudhari ◽  
Aruna Tiwari ◽  
◽  
...  
Keyword(s):  
Genetic Programming ◽  
Mutation Operator ◽  
New Mutation

New mutation in TSC1-gene in a sporadic case with initially mild phenotype

2012 ◽  
Vol 43 (02) ◽  
Author(s):  
C Thiels ◽  
C Köhler ◽  
K Weigt-Usinger ◽  
C Sutter ◽  
T Lücke
Keyword(s):  
Sporadic Case ◽  
New Mutation ◽  
Mild Phenotype ◽  
Tsc1 Gene

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

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