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RSS FeedsA novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family (BMC Medical Genetics)

 
 

7 january 2019 21:00:24

 
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family (BMC Medical Genetics)
 


Infantile nystagmus (IN) is an oculomotor disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show...


 
226 viewsCategory: Genetics, Medicine
 
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Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome (BMC Medical Genetics)
 
 
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