C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

2007 ◽  
Vol 39 (9) ◽  
pp. 1068-1070 ◽  
Author(s):  
Anna Richards ◽  
Arn M J M van den Maagdenberg ◽  
Joanna C Jen ◽  
David Kavanagh ◽  
Paula Bertram ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Exonuclease Trex1

859: Autosomal Dominant Tranmission of Genitovaginal Prolapse

2005 ◽  
Vol 173 (4S) ◽  
pp. 233-234
Author(s):  
Gregory S. Jack ◽  
Raviender Bukkapatnam ◽  
Ganka Nicolav ◽  
Eric Vilain ◽  
Larissa V. Rodriguez
Keyword(s):  
Autosomal Dominant

A frequent gene mutation associated with autosomal dominant Parkinson's disease

The Lancet ◽  
2005 ◽  
Vol 365 (9457) ◽  
pp. 412-415 ◽  
Author(s):  
A DIFONZO ◽  
C ROHE ◽  
J FERREIRA ◽  
H CHIEN ◽  
L VACCA ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Gene Mutation ◽  
Autosomal Dominant
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