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The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction
Kidney International
◽
10.1038/ki.2008.96
◽
2008
◽
Vol 73
(10)
◽
pp. 1151-1158
◽
Cited By ~ 26
Author(s):
D.G. Fuster
◽
J. Zhang
◽
X.-S. Xie
◽
O.W. Moe
Keyword(s):
Vacuolar Atpase
◽
Novel Mutations
◽
Distal Tubular Acidosis
Download Full-text
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Two Novel Mutations on Chromosome 16 Linked to Autism
Pediatric News
◽
10.1016/s0031-398x(08)70071-7
◽
2008
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Vol 42
(2)
◽
pp. 33
Author(s):
MARY ANN MOON
Keyword(s):
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◽
Novel Mutations
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Two novel mutations of RUNX2 gene in two sporadic cleidocranial dysplasia patients
Bone Abstracts
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10.1530/boneabs.5.p453
◽
2016
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Author(s):
Cong Zhang
◽
Yan Jiang
◽
Xiaoping Xing
◽
Mei Li
◽
Ou Wang
◽
...
Keyword(s):
Cleidocranial Dysplasia
◽
Novel Mutations
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Faculty Opinions recommendation of A plant proton-pumping inorganic pyrophosphatase functionally complements the vacuolar ATPase transport activity and confers bafilomycin resistance in yeast.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.13294003.14653127
◽
2011
◽
Author(s):
Ramón Serrano
Keyword(s):
Vacuolar Atpase
◽
Proton Pumping
◽
Inorganic Pyrophosphatase
◽
Transport Activity
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Faculty Opinions recommendation of Structure of the rotor ring modified with N,N'-dicyclohexylcarbodiimide of the Na+-transporting vacuolar ATPase.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.13132960.14484054
◽
2011
◽
Author(s):
Nathan Nelson
◽
Shai Saroussi
Keyword(s):
Vacuolar Atpase
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Faculty Opinions recommendation of Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.13371135.14741294
◽
2011
◽
Author(s):
Adrian Daly
Keyword(s):
Multiple Endocrine Neoplasia
◽
Multiple Endocrine Neoplasia Type
◽
Novel Mutations
◽
Endocrine Neoplasia
◽
Endocrine Neoplasia Type
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Faculty Opinions recommendation of Functional vacuolar ATPase (V-ATPase) proton pumps traffic to the enterocyte brush border membrane and require CFTR.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.718089195.793487140
◽
2013
◽
Author(s):
Richard J Naftalin
Keyword(s):
Brush Border
◽
Brush Border Membrane
◽
Vacuolar Atpase
◽
Proton Pumps
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Cloning and Expression Analysis of a Vacuolar ATPase Subunit A Gene in Maize
ACTA AGRONOMICA SINICA
◽
10.3724/sp.j.1006.2008.00031
◽
2008
◽
Vol 34
(1)
◽
Author(s):
Yi-Hui MAO
Keyword(s):
Expression Analysis
◽
Vacuolar Atpase
◽
Cloning And Expression
◽
Atpase Subunit
◽
Subunit A
Download Full-text
Novel Mutations in the EPO-R, VHL Genes and a Reported Mutation in EPAS1 Gene in the Congenital Erythrocytosis Patients in a Southern State of India
SSRN Electronic Journal
◽
10.2139/ssrn.3502366
◽
2019
◽
Author(s):
Chodimella Chandrasekhar
◽
Pasupuleti Santhosh Kumar
◽
Potukuchi Venkata Gurunadha Krishna Sarma
Keyword(s):
Novel Mutations
◽
Southern State
◽
I Gene
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Correction to: Neonatal Diabetes Mellitus: Novel Mutations
The Indian Journal of Pediatrics
◽
10.1007/s12098-021-03769-7
◽
2021
◽
Author(s):
Sapna Nayak
◽
Aditya Narayan Sarangi
◽
Saroj Kumar Sahoo
◽
Pragya Mangla
◽
Manoranjan Tripathy
◽
...
Keyword(s):
Diabetes Mellitus
◽
Neonatal Diabetes
◽
Neonatal Diabetes Mellitus
◽
Novel Mutations
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Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds
The Journal of Lipid Research
◽
10.1016/s0022-2275(20)34482-5
◽
2000
◽
Vol 41
(3)
◽
pp. 433-441
Author(s):
Margaret E. Brousseau
◽
Ernst J. Schaefer
◽
Josee Dupuis
◽
Brenda Eustace
◽
Paul Van Eerdewegh
◽
...
Keyword(s):
Atp Binding
◽
Tangier Disease
◽
Novel Mutations
◽
Gene Encoding
◽
Atp Binding Cassette
Download Full-text
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