Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred

Amyloid

Volumn 21, Issue 2, 2014, Pages 110-112

  Efebera, Yvonne A ^a   Sturm, Amy ^a   Baack, Elizabeth C ^a   Hofmeister, Craig C ^a   Satoskar, Anjali ^a   Nadasdy, Tibor ^b   Nadasdy, Gyongyi ^a   Benson, Don M ^a   Gillmore, Julian D ^b   Hawkins, Philip N ^b   Rowczenio, Dorota ^b  

^a OHIO STATE UNIVERSITY   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Amyloidosis; Gelsolin; Proteinuria

Indexed keywords

AMYLOID; GELSOLIN; PROTEIN VARIANT;

ADULT; ARTICLE; ASYMPTOMATIC DISEASE; CASE REPORT; DNA SEQUENCE; FOLLOW UP; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; KIDNEY AMYLOIDOSIS; KIDNEY BIOPSY; LASER MICRODISSECTION; LIQUID CHROMATOGRAPHY; MALE; MASS SPECTROMETRY; MIDDLE AGED; MUTATIONAL ANALYSIS; NEPHROTIC SYNDROME; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY; FAMILIAL AMYLOIDOSIS; GENETICS; KIDNEY DISEASE;

AMYLOIDOSIS, FAMILIAL; GELSOLIN; HUMANS; KIDNEY DISEASES; MALE; MIDDLE AGED; NEPHROTIC SYNDROME; PEDIGREE;

EID: 84900533152     PISSN: 13506129     EISSN: 17442818     Source Type: Journal    
DOI: 10.3109/13506129.2014.891502     Document Type: Article

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