Bioinformatic tools to determine the pathogenicity of a missense mutation in PKHD1 in autosomal recessive polycystic kidney disease.
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Elham
E
Alehabib
Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.
Javad
J
Jamshidi
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Hamid
H
Ghaedi
Department of Pediatric Nephrology, Shahid labbafinejad medical center, ShahidBeheshti University of medical sciences, Tehran, Iran.
Fahimeh
F
Askarian
Department of Internal Medicine, Shahid Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Leila
L
Mahmoudieh
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Amir Hossein
AH
Johari
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Hossein
H
Darvish
D019295:Computational Biology / Q000379:methods*; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D007223:Infant; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D010641:Phenotype; D017044:Polycystic Kidney, Autosomal Recessive / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D011487:Protein Conformation; D011956:Receptors, Cell Surface / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D013329:Structure-Activity Relationship
C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface
Autosomal recessive; PKHD1; polycystic kidney