Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient.
Soliman
Neveen A
NA
Hildebrandt
Friedhelm
F
Allen
Susan J
SJ
Otto
Edgar A
EA
Nabhan
Marwa M
MM
Badr
Ahmed M
AM
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins; D004534:Egypt; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000151:congenital / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction
D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human
J Am Soc Nephrol. 2004 Jul;15(7):1744-55
15213262
Am J Hum Genet. 2004 Jul;75(1):82-91
15138899
Hum Mutat. 2008 Mar;29(3):418-26
18076122
J Am Soc Nephrol. 2009 Jan;20(1):23-35
19118152
Eur J Hum Genet. 2009 Apr;17(4):406-16
19066617