Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12-Reference-Cited by-同舟云学术

Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12

Published:2010-12-24 Issue:4 Volume:129 Page:397-405
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Muhammad Emad,Leventhal Neta,Parvari Galit,Hanukoglu Aaron,Hanukoglu Israel,Chalifa-Caspi Vered,Feinstein Yael,Weinbrand Jenny,Jacoby Harel,Manor Esther,Nagar Tal,Beck John C.,Sheffield Val C.,Hershkovitz Eli,Parvari Ruti

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-010-0930-4.pdf

Reference42 articles.

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3. Ballestero Y, Hernandez MI, Rojo P, Manzanares J, Nebreda V, Carbajosa H, Infante E, Baro M (2006) Hyponatremic dehydration as a presentation of cystic fibrosis. Pediatr Emerg Care 22:725–727

4. Benson G (1999) Tandem repeats finder: a program to analyze DNA sequences. Nucleic Acids Res 27:573–580

5. Brown D, Zhu XL, Sly WS (1990) Localization of membrane-associated models of CA IV and CA XIV. Carbonic anhydrase type IV in kidney epithelial cells. Proc Natl Acad Sci USA 87:7457–7461

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