Beom Hee Lee Yo Han Ahn Hyun Jin Choi Hee Kyung Kang Sung-Do Kim Byoung-Soo Cho Kyung Chul Moon Il Soo Ha Hae Il Cheong Yong Choi
10.3346/jkms.2009.24.S1.S210
J Korean Med Sci
2009 Jan;24 Suppl(Suppl 1):S210-4.
congenital nephrotic syndrome congenital nephrotic syndrome of finnish type mutation nphs1 gene nephrin
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/19194555/
Membrane Proteins / genetics Nephrotic Syndrome / diagnosis Nephrotic Syndrome / genetics
Membrane Proteins / genetics Nephrotic Syndrome / diagnosis Nephrotic Syndrome / genetics Case Reports Research Support, Non-U.S. Gov't Base Sequence Biopsy Codon, Nonsense Female Frameshift Mutation Humans Infant Infant, Newborn Korea Male Microscopy, Electron / methods Molecular Sequence Data Mutation Codon, Nonsense Membrane Proteins nephrin
PMC2633182
19194555
Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type
2009