Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations

Lancet

Volumn 359, Issue 9317, 2002, Pages 1575-1577

  Patrakka, Jaakko ^a   Martin, Paula ^b   Salonen, Riitta ^a   Kestilä, Marjo ^a   Ruotsalainen, Vesa ^b   Männikkö, Minna ^b   Ryynänen, Markku ^b   Rapola, Juhani ^a   Holmberg, Christer ^a   Tryggvason, Karl ^c   Jalanko, Hannu ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF OULU   (Finland)

^c KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN;

AMNION FLUID ANALYSIS; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL NEPHROTIC SYNDROME; CONTROLLED STUDY; DIAGNOSTIC VALUE; FETUS; GENE MUTATION; GENOTYPE; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEINURIA; RELIABILITY;

EID: 0037018760     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(02)08504-5     Document Type: Article

References (5)

1. Congenital nephrotic syndrome of the Finnish type (NPHS1): Features resulting from different mutations in Finnish patients
2. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome
3. Positionally cloned gene for a novel glomerular protein - Nephrin - Is mutated in congenital nephrotic syndrome
4. Improved prenatal diagnosis of the congenital nephrosis of the Finnish type based on DNA analysis
5. Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: Insights into mechanisms of congenital nephrotic syndrome