Now showing items 1-3 of 3
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
(Springer-Verlag; IPNA, 2006-01)
Joubert syndrome (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, mental retardation, muscular hypotonia, an irregular breathing pattern in the neonatal period and abnormal ...
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis Communicated by JÜrgen Horst Online Citation: Human Mutation , Mutation in Brief #797 (2005) Online http://www3.interscience.wiley.com/homepages/38515/pdf/797.pdf
(Wiley Subscription Services, Inc., A Wiley Company, 2005-04)
Nephronophthisis (NPH), a recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal disease in the first two decades of life. Mutations in three genes (NPHP1, 2, and 3) were identified as ...
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing Communicated by Peter Byers
(Wiley Subscription Services, Inc., A Wiley Company, 2008-03)
Nephronophthisis (NPHP), an autosomal recessive kidney disease, is the most frequent genetic cause of chronic renal failure in the first three decades of life. Mutations in eight genes ( NPHP1–8 ) have been identified. We ...