ADPKD phenocopies and a novel frameshift variant in COL4A1: a case report

被引：0
|
作者：
Mioli, Fiorenza [1 ,2 ]
Arruga, Francesca [1 ]
Bracciama, Valeria [1 ,2 ]
Carli, Diana [1 ,2 ]
Faini, Angelo Corso [1 ,2 ]
del Prever, Giulia Margherita Brach [1 ,2 ]
Luca, Maria [1 ,2 ]
Romeo, Carmelo Maria [1 ,2 ]
Scolari, Caterina [1 ,2 ]
Saglia, Claudia [1 ,2 ]
Gai, Massimo [3 ]
Giraudi, Roberta [3 ]
Biancone, Luigi [2 ,3 ]
Vaisitti, Tiziana [1 ,2 ]
Deaglio, Silvia [1 ,2 ]
机构：
[1] AOU Citta Salute Scienza Turin, Immunogenet & Transplant Biol, Turin, Italy
[2] Univ Turin, Dept Med Sci, Turin, Italy
[3] AOU Citta Salute Scienza Turin, Nephrol Dialysis & Transplantat, Turin, Italy
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P05.018.B
引用
收藏
页码：1351 / 1352
页数：2
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