Autosomal dominant polycystic kidney disease: identification of two polymorphisms

被引：1

作者：

Sahnoun, Safa ^{[1
]}

Barbouch, Samia ^{[2
]}

Fredj, Sondess Hadj ^{[1
]}

Khedher, Adel ^{[2
]}

Messaoud, Taieb ^{[1
]}

机构：

[1] Hop Enfant, Lab Biochim & Biol Mol, Tunis, Tunisia

[2] Serv Nephrol & Med A, Tunis, Tunisia

来源：

关键词：

polycystic kidney disease; Tunisian ADPKD patient; polymorphisms; PKD1; GENE; MUTATION; PROTEIN; CELLS;

D O I：

10.1684/abc.2015.1036

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

The identification of polymorphism A4059V associated with the 12276 A>G at exon 45 of the PKD1 gene in a Tunisian polycystic patient.

引用

页码：181 / 183

页数：3

共 50 条

[1] Autosomal dominant polycystic kidney disease
Simms, Roslyn J.
BMJ-BRITISH MEDICAL JOURNAL, 2016, 352
[2] Autosomal dominant polycystic kidney disease
Chow, Chern Li
Ong, Albert C. M.
CLINICAL MEDICINE, 2009, 9 (03) : 278 - 283
[3] Autosomal dominant polycystic kidney disease
Lanktree, Matthew B.
Chapman, Arlene B.
CANADIAN MEDICAL ASSOCIATION JOURNAL, 2017, 189 (45) : E1396 - E1396
[4] AUTOSOMAL DOMINANT POLYCYSTIC DISEASE OF THE KIDNEY
FICK, G
WEBER, M
DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT, 1992, 117 (30) : 1160 - 1164
[5] Autosomal Dominant Polycystic Kidney Disease
Zacharia, George Sarin
Rajakumari, P. K.
JOURNAL OF PIONEERING MEDICAL SCIENCES, 2013, 3 (04): : 194 - 195
[6] Autosomal dominant polycystic kidney disease
Silverman, Jonathan
Desai, Chaitanya
Lerma, Edgar V.
DM DISEASE-A-MONTH, 2015, 61 (10): : 442 - 447
[7] AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
Pljesa, Steva
SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO, 2008, 136 : 340 - 347
[8] Autosomal dominant polycystic kidney disease
Ferrer, Elisa
Bozzo, Jordi
DRUGS OF THE FUTURE, 2006, 31 (07) : 611 - 615
[9] Autosomal Dominant Polycystic Kidney Disease
Perumareddi, Parvathi
Trelka, Darin P.
PRIMARY CARE, 2020, 47 (04): : 673 - 689
[10] Autosomal Dominant Polycystic Kidney Disease
Suarez, Maria Lourdes Gonzalez
Titan, Silvia
Dahl, Neera K.
ADVANCES IN KIDNEY DISEASE AND HEALTH, 2024, 31 (06): : 496 - 503