Identification of an NPHP1 deletion causing adult form of nephronophthisis

Irish Journal of Medical Science

Volumn 185, Issue 3, 2016, Pages 589-595

  Haghighi, A ^a,b,c   Savaj, S ^d   Haghighi Kakhki, H ^e   Benoit, V ^f   Grisart, B ^f   Dahan, K ^f,g  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e ISLAMIC AZAD UNIVERSITY   (Iran)

^f INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^g UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

Author keywords

Deletion; Iran; Nephronophthisis; NPHP; NPHP type 1; Size determination

Indexed keywords

GENOMIC DNA; TAMM HORSFALL GLYCOPROTEIN; MEMBRANE PROTEIN; NPHP1 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; UMOD PROTEIN, HUMAN;

ADULT; ADULTHOOD; ARTICLE; CASE REPORT; CHROMOSOME 2Q; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA SEQUENCE; END STAGE RENAL DISEASE; EXON; FEMALE; GENE; GENE DELETION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTERSTITIAL NEPHRITIS; KARYOTYPING; KIDNEY TRANSPLANTATION; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEPHRONOPHTHISIS; NEPHRONOPHTHISIS 1 GENE; RENAL REPLACEMENT THERAPY; YOUNG ADULT; CHRONIC KIDNEY FAILURE; DEFICIENCY; GENETICS; GENOTYPE; KIDNEY DISEASES, CYSTIC;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; FEMALE; GENOTYPE; HUMANS; KIDNEY DISEASES, CYSTIC; KIDNEY FAILURE, CHRONIC; MALE; MEMBRANE PROTEINS; SEQUENCE DELETION; UROMODULIN; YOUNG ADULT;

EID: 84930350387     PISSN: 00211265     EISSN: 18634362     Source Type: Journal    
DOI: 10.1007/s11845-015-1312-7     Document Type: Article

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