Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis

Kidney International

Volumn 75, Issue 4, 2009, Pages 415-419

  Gilbert, Rodney D ^a,b   Turner, Claire L S ^a,b   Gibson, Jane ^b   Bass, Paul S ^a   Haq, Mushfequr R ^a   Cross, Esta ^c   Bunyan, David J ^c   Collins, Andrew R ^b   Tapper, William J ^b   Needell, Juliet C ^a   Dell, Beverley ^a   Morton, Newton E ^b   Temple, I Karen ^a,b   Robinson, David O ^b,c  

^a SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

Author keywords

Congenital nephrotic syndrome; Consanguineous; Diffuse mesangial sclerosis; Genome wide SNP analysis; Phospholipase C epsilon 1

Indexed keywords

PHOSPHOLIPASE C; PHOSPHOLIPASE C EPSILON 1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONGENITAL NEPHROTIC SYNDROME; CONSANGUINITY; EXON; GENE DELETION; GENE MAPPING; GENE MUTATION; GLOMERULOPATHY; HOMOZYGOTE; HUMAN; INFANT; MALE; MESANGIUM SCLEROSIS; PAKISTAN; PRIORITY JOURNAL; SCLEROSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

FAMILY HEALTH; GLOMERULAR MESANGIUM; HOMOZYGOTE; HUMANS; MUTATION; PAKISTAN; PEDIGREE; PENETRANCE; PHOSPHOINOSITIDE PHOSPHOLIPASE C; SCLEROSIS;

EID: 59149091746     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2008.573     Document Type: Article

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