Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype with ESRD

Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype with ESRD

Nephronophthisis (NPHP) is one of the most common genetic causes of CKD; however, the underlying genetic abnormalities have been established in

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Veröffentlicht in:Journal of the American Society of Nephrology 2014-08, Vol.25 (8), p.1653-1661
Hauptverfasser: TASKIRAN, Ekim Z, KORKMAZ, Emine, CANDAN, Cengiz, TOPALOGLU, Rezan, SCHAEFER, Franz, ATTANASIO, Massimo, BERGMANN, Carsten, OZALTIN, Fatih, GUCER, Safak, KOSUKCU, Can, KAYMAZ, Figen, KOYUNLAR, Cansu, BRYDA, Elizabeth C, CHAKI, Moumita, DONGMEI LU, VADNAGARA, Komal
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Adult
Biological and medical sciences
Brief Communications
Child
Cohort Studies
Female
Humans
Infant
Kidney Diseases, Cystic - complications
Kidney Diseases, Cystic - genetics
Kidney Diseases, Cystic - pathology
Kidney Failure, Chronic - genetics
Kidney Failure, Chronic - pathology
Male
Medical sciences
Middle Aged
Mutation - genetics
Nephrology. Urinary tract diseases
Nephropathies. Renovascular diseases. Renal failure
Nuclear Proteins - genetics
Pedigree
Phenotype
Renal failure
Turkey
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Beschreibung
Zusammenfassung:Nephronophthisis (NPHP) is one of the most common genetic causes of CKD; however, the underlying genetic abnormalities have been established in
ISSN:1046-6673
1533-3450
DOI:10.1681/ASN.2013060646