Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.

Simpson, Michael A

Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. [electronic resource] - American journal of kidney diseases : the official journal of the National Kidney Foundation May 2009 - 790-5 p. digital

Publication Type: Comparative Study; Journal Article

1523-6838

10.1053/j.ajkd.2008.12.026 doi


DNA--genetics
DNA Mutational Analysis
Ethnicity
Exons
Female
Homozygote
Humans
Infant, Newborn
Kidney Diseases, Cystic--congenital
Kinesins--genetics
Male
Mutation
Pedigree
Pregnancy
Prognosis
Survival Rate
United States