No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations

Pediatric Nephrology

Volumn 19, Issue 12, 2004, Pages 1340-1348

  Schultheiss, Michael ^a   Ruf, Rainer G ^a,c   Mucha, Bettina E ^a   Wiggins, Roger ^a   Fuchshuber, Arno ^d   Lichtenberger, Anne ^d   Hildebrandt, Friedhelm ^a,b,e  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

Author keywords

Congenital nephrotic syndrome; Mutational analysis; NPHS1; NPHS2; Steroid resistant nephrotic syndrome

Indexed keywords

NEPHRIN; PODOCIN; STEROID;

ALLELE; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; DISEASE COURSE; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPOTHESIS; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEPHROTIC SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; RECESSIVE GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; PROTEINS;

EID: 8844251405     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-004-1629-3     Document Type: Article

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