Autosomal dominant Alport syndrome: Molecular analysis of the COL4A4 gene and clinical outcome

Nephrology Dialysis Transplantation

Volumn 24, Issue 5, 2009, Pages 1464-1471

  Marcocci, Elena ^a   Uliana, Vera ^a   Bruttini, Mirella ^a   Artuso, Rosangela ^a   Silengo, Margherita Cirillo ^b   Zerial, Marlenka ^c   Bergesio, Franco ^d   Amoroso, Antonio ^e   Savoldi, Silvana ^f   Pennesi, Marco ^g   Giachino, Daniela ^h   Rombol, Giuseppe ⁱ   Fogazzi, Giovanni Battista ^j   Rosatelli, Cristina ^k   Martinhago, Ciro Dresch ^l   Carmellini, Mario ^a   Mancini, Roberta ^a   Di Costanzo, Giuseppina ^a   Longo, Ilaria ^a   Renieri, Alessandra ^a   Mari, Francesca ^a   more..

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c BUFALINI HOSPITAL   (Italy)

^d CAREGGI UNIVERSITY HOSPITAL   (Italy)

^e MOLINETTE HOSPITAL   (Italy)

^f Nephrology and Dialysis Units   (Italy)

^g INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^h UNIVERSITY OF TURIN   (Italy)

ⁱ SAPIENZA UNIVERSITY OF ROME   (Italy)

^j IRCCS   (Italy)

^k UNIVERSITY OF CAGLIARI   (Italy)

^l NONE   (Brazil)

more..

Author keywords

ADAS; ATS; Autosomal dominant Alport syndrome; BFH; COL4A4; TBMN

Indexed keywords

ADOLESCENT; ADULT; AGED; ALPORT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; COL4A3 GENE; COL4A4 GENE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HEMATURIA; HUMAN; KIDNEY FAILURE; MALE; MISSENSE MUTATION; OUTCOME ASSESSMENT; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; SCHOOL CHILD; X CHROMOSOME LINKED DISORDER;

AGED; COLLAGEN TYPE IV; DIAGNOSIS, DIFFERENTIAL; FEMALE; FRAMESHIFT MUTATION; HEMATURIA; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; NEPHRITIS, HEREDITARY; PEDIGREE; POLYMORPHISM, GENETIC; PROGNOSIS;

EID: 65249093635     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfn681     Document Type: Article

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