SCOPUS 정보 검색 플랫폼

Volumn 57, Issue 2, 2012, Pages 476-477

Dosage-sensitive network in polycystic kidney and liver disease: Multiple mutations cause severe hepatic and neurological complications

(4) Kleffmann, Jens a Frank, Valeska b Ferbert, Andreas a Bergmann, Carsten b,c,d

a KLINIKUM KASSEL (Germany)

b Center for Human Genetics (Germany)

c RWTH AACHEN UNIVERSITY (Germany)

d UNIVERSITY OF FREIBURG (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENE MUTATION; HUMAN; INTRACRANIAL ANEURYSM; KIDNEY POLYCYSTIC DISEASE; LETTER; LIVER DISEASE; MOLECULAR MECHANICS; NEUROLOGICAL COMPLICATION; PRIORITY JOURNAL; SUBARACHNOID HEMORRHAGE;

ADULT; CYSTS; HUMANS; LIVER DISEASES; MUTATION; POLYCYSTIC KIDNEY DISEASES; TRPP CATION CHANNELS;

EID: 84863985916 PISSN: 01688278 EISSN: None Source Type: Journal
DOI: 10.1016/j.jhep.2012.03.001 Document Type: Letter

Times cited : (9)

References (6)

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- Harris, P.C.¹ Torres, V.E.²

2
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- Polycystic liver diseases: Congenital disorders of cholangiocyte signalling
- M. Strazzabosco, and S. Somlo Polycystic liver diseases: congenital disorders of cholangiocyte signalling Gastroenterology 140 2011 1855 1859
- (2011) Gastroenterology , vol.140 , pp. 1855-1859
- Strazzabosco, M.¹ Somlo, S.²

3
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- A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation
- S.V. Fedeles, X. Tian, and A.R. Gallagher A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation Nat Genet 43 2011 639 647
- (2011) Nat Genet , vol.43 , pp. 639-647
- Fedeles, S.V.¹ Tian, X.² Gallagher, A.R.³

4
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- Novel mutations in the duplicated region of PKD1 gene
- R. Perrichot, B. Mercier, I. Quere, A. Carre, P. Simon, B. Whebe, J. Cledes, and C. Ferec Novel mutations in the duplicated region of PKD1 gene Eur J Hum Genet 8 2000 353 359
- (2000) Eur J Hum Genet , vol.8 , pp. 353-359
- Perrichot, R.¹ Mercier, B.² Quere, I.³ Carre, A.⁴ Simon, P.⁵ Whebe, B.⁶ Cledes, J.⁷ Ferec, C.⁸

5
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- Secondary and tertiary structure modelling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63
- E. Waanders, H. Venselaar, R.H. te Morsche, D.B. de Koning, P.S. Kamath, V.E. Torres, S. Somlo, and J.P. Drenth Secondary and tertiary structure modelling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63 Clin Genet 78 2010 47 56
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- Waanders, E.¹ Venselaar, H.² Te Morsche, R.H.³ De Koning, D.B.⁴ Kamath, P.S.⁵ Torres, V.E.⁶ Somlo, S.⁷ Drenth, J.P.⁸

6
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- Mutations in multiple PKD genes may explain early and severe polycystic kidney disease
- C. Bergmann, J. von Bothmer, and N. Bruchle Mutations in multiple PKD genes may explain early and severe polycystic kidney disease J Am Soc Nephrol 22 2011 2047 2056
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- Bergmann, C.¹ Von Bothmer, J.² Bruchle, N.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.