Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria

Author:

Majumdar Ramanath1,Yori Andrew1,Rush Peggy W.2,Raymond Kimiyo1,Gavrilov Dimitar1,Tortorelli Silvia1,Matern Dietrich1,Rinaldo Piero1,Feldman Gerald L.3,Oglesbee Devin1ORCID

Affiliation:

1. Mayo Clinic College of Medicine; Rochester Minnesota

2. Children's Hospital of Michigan; Detroit Michigan

3. Wayne State University School of Medicine; Detroit Michigan

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference15 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Formiminotransferase-deficiency syndrome: a new inborn error of folic acid metabolism;Arakawa;Ann. Paediatr.,1965

3. Familial occurrence of formiminotransferase deficiency of syndrome;Arakawa;Tohoku J. Exp. Med.,1968

4. The UCSC Genome Browser database: extensions and updates 2011;Dreszer;Nucleic Acids Res.,2012

5. The molecular basis of glutamate formiminotransferase deficiency;Hilton;Hum. Mutat.,2003

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