Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia

Volumn 23, Issue 5, 2012, Pages 1090-1098

  Soliman, Neveen A ^a   Hildebrandt, Friedhelm ^b   Otto, Edgar A ^b   Nabhan, Marwa M ^b   Allen, Susan J ^b   Badr, Ahmed M ^b   Sheba, Maha ^b   Fadda, Sawsan ^b   Gawdat, Ghada ^b   El Kiky, Hassan ^b  

^a CAIRO UNIVERSITY   (Egypt)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; NPHP1 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

AGE; ARTICLE; CHILD; CHRONIC KIDNEY FAILURE; DISEASE COURSE; ECHOGRAPHY; EGYPT; EUKARYOTIC FLAGELLUM; FEMALE; GENE DELETION; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; HUMAN; INFANT; KIDNEY; KIDNEY POLYCYSTIC DISEASE; MALE; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AGE FACTORS; CHILD; CHILD, PRESCHOOL; CILIA; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EGYPT; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; INFANT; KIDNEY; KIDNEY DISEASES, CYSTIC; KIDNEY FAILURE, CHRONIC; MALE; MEMBRANE PROTEINS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE OF TESTS; SEQUENCE DELETION;

EID: 84873261462     PISSN: 13192442     EISSN: None     Source Type: Journal    
DOI: 10.4103/1319-2442.100968     Document Type: Article

References (0)