herc2 gene
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A Novel Mutation in HERC2 Gene in a Patient with Global Developmental Delay, Intellectual Disability, and Refractory Seizures

2020 ◽  
Author(s):  
Hussein Algahtani ◽  
Bader Shirah ◽  
Mustafa Daghistani ◽  
Mohammad H. Al-Qahtani ◽  
Angham Abdulrahman Abdulkareem ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Novel Mutation ◽  
Global Developmental Delay ◽  
Refractory Seizures ◽  
Herc2 Gene

scholarly journals HERC2 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Herc2 Gene

scholarly journals A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color

2008 ◽  
Vol 82 (2) ◽  
pp. 424-431 ◽  
Author(s):  
Richard A. Sturm ◽  
David L. Duffy ◽  
Zhen Zhen Zhao ◽  
Fabio P.N. Leite ◽  
Mitchell S. Stark ◽  
...  
Keyword(s):  
Eye Color ◽  
Conserved Region ◽  
Herc2 Gene

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

2008 ◽  
Vol 123 (2) ◽  
pp. 177-187 ◽  
Author(s):  
Hans Eiberg ◽  
Jesper Troelsen ◽  
Mette Nielsen ◽  
Annemette Mikkelsen ◽  
Jonas Mengel-From ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Regulatory Element ◽  
Eye Color ◽  
Herc2 Gene
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