AUTOSOMAL-DOMINANT ALPORT SYNDROME LINKED TO MARKERS ON 2Q FLANKING THE COL4A3 COL4A4 GENES

被引:0
|
作者
JEFFERSON, JA
HUGHES, AE
HILL, C
MAXWELL, AP
DOHERTY, CC
NEVIN, NC
机构
[1] BELFAST CITY HOSP,DEPT NEPHROL,BELFAST BT9 7AD,ANTRIM,NORTH IRELAND
[2] QUEENS UNIV BELFAST,DEPT MED GENET,BELFAST BT7 1NN,ANTRIM,NORTH IRELAND
[3] ROYAL VICTORIA HOSP,DEPT PATHOL,BELFAST BT12 6BA,NORTH IRELAND
来源
关键词
D O I
暂无
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:647 / 647
页数:1
相关论文
共 50 条
  • [21] Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation
    van der Loop, FTL
    Heidet, L
    Timmer, EDJ
    van der Bosch, BJC
    Leinonen, A
    Antignac, C
    Jefferson, JA
    Maxwell, AP
    Monnens, LAH
    Schröder, CH
    Smeets, HJML
    KIDNEY INTERNATIONAL, 2000, 58 (05) : 1870 - 1875
  • [22] Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome
    Levy, Michal
    Bazak, Lily
    Lev-El, Noa
    Greenberg, Rotem
    Kropach, Nesia
    Basel-Salmon, Lina
    Maya, Idit
    GENES, 2023, 14 (10)
  • [23] Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria
    Slajpah, M.
    Gorinsek, B.
    Berginc, G.
    Vizjak, A.
    Ferluga, D.
    Hvala, A.
    Meglic, A.
    Jaksa, I.
    Furlan, P.
    Gregoric, A.
    Kaplan-Pavlovcic, S.
    Ravnik-Glavac, M.
    Glavac, D.
    KIDNEY INTERNATIONAL, 2007, 71 (12) : 1287 - 1295
  • [24] Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique
    Zhao, Xuechao
    Chen, Chen
    Wei, Yanfu
    Zhao, Ganye
    Liu, Lina
    Wang, Conghui
    Zhang, Junjun
    Kong, Xiangdong
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (06):
  • [25] Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome
    Marcocci, Elena
    Uliana, Vera
    Bruttini, Mirella
    Artuso, Rosangela
    Silengo, Margherita Cirillo
    Zerial, Marlenka
    Bergesio, Franco
    Amoroso, Antonio
    Savoldi, Silvana
    Pennesi, Marco
    Giachino, Daniela
    Rombola, Giuseppe
    Fogazzi, Giovanni Battista
    Rosatelli, Cristina
    Martinhago, Ciro Dresch
    Carmellini, Mario
    Mancini, Roberta
    Di Costanzo, Giuseppina
    Longo, Ilaria
    Renieri, Alessandra
    Mari, Francesca
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2009, 24 (05) : 1464 - 1471
  • [26] Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria
    Badenas, C
    Praga, M
    Tazón, B
    Heidet, L
    Arrondel, C
    Armengol, A
    Andrés, A
    Morales, E
    Camacho, JA
    Lens, X
    Dávila, S
    Milà, M
    Antignac, C
    Darnell, A
    Torra, R
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (05): : 1248 - 1254
  • [27] Polymorphism Analysis of COL4A3 and COL4A4 Genes in Greek Patients with Keratoconus
    Kokolakis, Nikolaos S.
    Gazouli, Maria
    Chatziralli, Irini P.
    Koutsandrea, Chryssanthi
    Gatzioufas, Zisis
    Peponis, Vasileios G.
    Droutsas, Konstantinos D.
    Kalogeropoulos, Christos
    Anagnou, Nicholas
    Miltsakakis, Dimitrios
    Moschos, Marilita M.
    OPHTHALMIC GENETICS, 2014, 35 (04) : 226 - 228
  • [28] The ClinGen Alport Syndrome Variant Curation Expert Panel: Guiding Variant Classification in COL4A3, COL4A4, and COL4A5
    Byrne, Alicia B.
    Wongboonsin, Janewit
    Roberts, Mary-Beth
    Savige, Judith A.
    Lennon, Rachel
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2024, 35 (10):
  • [29] Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant
    Daga, Sergio
    Loberti, Lorenzo
    Rollo, Giulia
    Adamo, Loredaria
    Colavecchio, Olga Lorenza
    Brunelli, Giulia
    Zguro, Kristina
    Tripodi, Sergio Antonio
    Guarnieri, Andrea
    Garosi, Guido
    D'Aurizio, Romina
    Ariani, Francesca
    Tita, Rossella
    Renieri, Alessandra
    Pinto, Anna Maria
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, : 556 - 557
  • [30] A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome
    Yavas, Cueneyd
    Ozgenturk, Nehir Ozdemir
    Dogan, Mustafa
    Gezdirici, Alper
    Keskin, Ece
    Ili, Ezgi Gokpinar
    Dogan, Tunay
    Celebi, Evrim
    Bender, Onur
    Un, Cemal
    MOLECULAR SYNDROMOLOGY, 2023, 15 (01) : 1 - 13