Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus

Clinical Nephrology

Volumn 69, Issue 2, 2008, Pages 135-141

  Okada, M ^a   Sugimoto, K ^a   Shimada, Y ^a   Fujita, S ^a   Yanagida, H ^a   Yagi, K ^a   Takemura, Tsukasa ^a  

^a KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

INVS; Jeune syndrome; NPHP2; Renal insufficiency; Situs inversus

Indexed keywords

ANGIOTENSIN RECEPTOR ANTAGONIST; CHROMOSOME PROTEIN; DIGITALIS; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIURETIC AGENT; ENALAPRIL MALEATE; GENOMIC DNA; PROTEIN NPHP2; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADULT; ANOREXIA; ARTICLE; BRONCHIECTASIS; CASE REPORT; CHROMOSOME 12P; CHROMOSOME ANALYSIS; CHRONIC SINUSITIS; CRYPTORCHISM; DEXTROCARDIA; DOPPLER ECHOGRAPHY; EXON; FATIGUE; GENE MUTATION; GENETIC ANALYSIS; HEADACHE; HEART EJECTION FRACTION; HEART FAILURE; HETEROZYGOTE; HUMAN; HYPERTENSION; KARTAGENER SYNDROME; KIDNEY BIOPSY; KIDNEY FAILURE; MALE; MUTATIONAL ANALYSIS; NEPHRONOPHTHISIS; PROTEINURIA; RESPIRATORY DISTRESS; SITUS INVERSUS;

EID: 38949165384     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/CNP69135     Document Type: Article

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