Improving mutation screening in familial hematuric nephropathies through next generation sequencing

Journal of the American Society of Nephrology

Volumn 25, Issue 12, 2014, Pages 2740-2751

  Morinière, Vincent ^a,b   Dahan, Karin ^c   Hilbert, Pascale ^c   Lison, Marieline ^c   Lebbah, Said ^b   Topa, Alexandra ^d   Bole Feysot, Christine ^e   Pruvost, Solenn ^e   Nitschke, Patrick ^f   Plaisier, Emmanuelle ^g   Knebelmann, Bertrand ^a   Macher, Marie Alice ^h   Noel, Laure Hélène ^a   Gubler, Marie Claire ^e   Antignac, Corinne ^a,b,e,f   Heidet, Laurence ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^d SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^e IMAGINE INSTITUTE   (France)

^f INSERM US24 CNRS UMS3633   (France)

^g HÔPITAL TENON   (France)

^h HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4A3; COLLAGEN TYPE 4A4; COLLAGEN TYPE 4A5; UNCLASSIFIED DRUG; AUTOANTIGEN; COL4A4 PROTEIN, HUMAN; COL4A5 PROTEIN, HUMAN; TYPE IV COLLAGEN ALPHA3 CHAIN;

ADOLESCENT; ADULT; ALPORT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CAPILLARY ELECTROPHORESIS; CHILD; CODON; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FAMILIAL HEMATURIC NEPHROPATHY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HEMATURIA; HUMAN; INDEL MUTATION; INTRON; KIDNEY DISEASE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; NEXT GENERATION SEQUENCING; PRESCHOOL CHILD; PRIORITY JOURNAL; COHORT ANALYSIS; FAMILY HEALTH; GENETICS; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; MIDDLE AGED; MUTATION; NEPHRITIS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT;

ADOLESCENT; ADULT; AUTOANTIGENS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COLLAGEN TYPE IV; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC COUNSELING; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MIDDLE AGED; MUTATION; NEPHRITIS, HEREDITARY; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 84923880098     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2013080912     Document Type: Article

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