Simple jQuery Dropdowns
Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/26168
Full metadata record
DC FieldValueLanguage
dc.contributor.authorChairat Shayakulen_US
dc.contributor.authorSeth L. Alperen_US
dc.contributor.otherMahidol Universityen_US
dc.contributor.otherHarvard Medical Schoolen_US
dc.contributor.otherBeth Israel Deaconess Medical Centeren_US
dc.date.accessioned2018-09-07T09:18:09Z-
dc.date.available2018-09-07T09:18:09Z-
dc.date.issued2000-09-18en_US
dc.identifier.citationCurrent Opinion in Nephrology and Hypertension. Vol.9, No.5 (2000), 541-546en_US
dc.identifier.issn10624821en_US
dc.identifier.other2-s2.0-0033849844en_US
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0033849844&origin=inwarden_US
dc.identifier.urihttp://repository.li.mahidol.ac.th/dspace/handle/123456789/26168-
dc.description.abstractThe past few years have witnessed great progress in elucidating the molecular basis of inherited renal tubular acidosis. Consistent with the physiologically defined importance of multiple gene products in urinary acidification, heritable renal tubular acidosis is genetically heterogeneous. Autosomal dominant distal renal tubular acidosis has been associated with a small number of mutations in the AE1 Cl-/HCO3- exchanger although the pathophysiologic mechanisms behind these mutations remain unclear. Rarely, autosomal recessive distal RTA is caused by homozygosity or compound heterozygosity for the loss-of-function mutation AE1 G701D. A larger proportion, often accompanied by hearing loss, is associated with mutations in the ATP6B1 gene encoding the 58 kDa B1 subunit of the vacuolar H+-ATPase. Mutations in the gene encoding the Na+/HCO3- cotransporter, NBC1, have recently been identified in proximal renal tubular acidosis with corneal calcification. (C) 2000 Lippincott Williams and Wilkins.en_US
dc.rightsMahidol Universityen_US
dc.source.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0033849844&origin=inwarden_US
dc.subjectMedicineen_US
dc.titleInherited renal tubular acidosisen_US
dc.typeReviewen_US
dc.rights.holderSCOPUSen_US
dc.identifier.doi10.1097/00041552-200009000-00014en_US
Appears in Collections:Scopus 1991-2000

Files in This Item:
There are no files associated with this item.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.