Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria

PLoS ONE

Volumn 8, Issue 10, 2013, Pages

  Chatterjee, Rajshekhar ^a   Hoffman, Mary ^a   Cliften, Paul ^a   Seshan, Surya ^b   Liapis, Helen ^a   Jain, Sanjay ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4;

ADOLESCENT; ADULT; AFRICAN AMERICAN; AGED; ALPORT SYNDROME; APOL1 GENE; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COL4A3 GENE; COL4A5 GENE; CONTROLLED STUDY; DISEASE SEVERITY; ELECTRON MICROSCOPY; EXOME; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HEMATURIA; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYDRONEPHROSIS; KIDNEY MALFORMATION; MALE; MEDICAL INFORMATION; MYH9 GENE; NEPHROTIC SYNDROME; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PROTEINURIA; SALL2 GENE; SCHOOL CHILD; URINARY TRACT INFECTION; VESICOURETERAL REFLUX;

ANIMALS; AUTOANTIGENS; COLLAGEN TYPE IV; EXOME; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MIDDLE AGED; MOLECULAR MOTOR PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; MYOSIN HEAVY CHAINS; NEPHRITIS, HEREDITARY; PEDIGREE; PHENOTYPE; PROTEINURIA; TRANSCRIPTION FACTORS;

EID: 84885403082     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0076360     Document Type: Article

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