Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation-Reference-Cited by-同舟云学术

Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation

Published:2016-12 Issue:1 Volume:3 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Duran Daniel^ORCID,Jin Sheng Chih,DeSpenza Tyrone,Nelson-Williams Carol,Cogal Andrea G,Abrash Elizabeth W,Harris Peter C,Lieske John C,Shimshak Serena JE,Mane Shrikant,Bilguvar Kaya,DiLuna Michael L,Günel Murat,Lifton Richard P,Kahle Kristopher T

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv201642.pdf

Reference47 articles.

1. Devuyst O, Thakker RV . Dent's disease. Orphanet J Rare Dis 2010; 5: 28.

2. Shrimpton AE, Hoopes RR Jr, Knohl SJ, Hueber P, Reed AA, Christie PT et al. OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability. Nephron Physiol 2009; 112: p27–p36.

3. Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J et al. Dent Disease with mutations in OCRL1. Am J Hum Genet 2005; 76: 260–267. Epub 2004 Dec 30. Erratum in: Am J Hum Genet 2007; 81(3):634.

4. Frymoyer PA, Scheinman SJ, Dunham PB, Jones DB, Hueber P, Schroeder ET et al. X-linked recessive nephrolithiasis with renal failure. N Engl J Med 1991; 325: 681–686.

5. Scheinman SJ . X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 1998; 53: 3–17.

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