Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria

Journal of the American Society of Nephrology

Volumn 22, Issue 10, 2011, Pages 1815-1820

  Ovunc, Bugsu ^a,d   Otto, Edgar A ^a   Vega Warner, Virginia ^a   Saisawat, Pawaree ^a   Ashraf, Shazia ^a   Ramaswami, Gokul ^a   Fathy, Hanan M ^e   Schoeb, Dominik ^a   Chernin, Gil ^a   Lyons, Robert H ^b   Yilmaz, Engin ^d   Hildebrandt, Friedhelm ^a,c  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^d HACETTEPE UNIVERSITY   (Turkey)

^e ALEXANDRIA UNIVERSITY   (Egypt)

Author keywords

[No Author keywords available]

Indexed keywords

CUBILIN; CYANOCOBALAMIN; INTRINSIC FACTOR;

ARTICLE; CASE REPORT; CONSANGUINITY; CONTROLLED STUDY; CYANOCOBALAMIN DEFICIENCY; EXOME; FRAMESHIFT MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; MEGALOBLASTIC ANEMIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEINURIA; SIBLING;

EID: 80053546629     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2011040337     Document Type: Article

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