Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients

Nephron - Clinical Practice

Volumn 120, Issue 3, 2012, Pages

  Ovunc, Bugsu ^a,d   Ashraf, Shazia ^a   Vega Warner, Virginia ^a   Bockenhauer, Detlef ^e   Soliman Elshakhs, Neveen A ^f,g   Joseph, Mark ^c   Hildebrandt, Friedhelm ^a,b,h  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c PHOENIX CHILDREN'S HOSPITAL   (United States)

^d HACETTEPE UNIVERSITY   (Turkey)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f CAIRO UNIVERSITY   (Egypt)

^g Egyptian Group for Orphan Renal Diseases EGORD   (Egypt)

^h UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

Author keywords

Congenital nephrotic syndrome; Mutation analysis; NPHS1

Indexed keywords

NEPHRIN;

ARTICLE; CLINICAL ARTICLE; CONGENITAL NEPHROTIC SYNDROME; CONTROLLED STUDY; EXON; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; NEPHROTIC SYNDROME;

EID: 84860787585     PISSN: None     EISSN: 16602110     Source Type: Journal    
DOI: 10.1159/000337379     Document Type: Article

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