scholarly article | Q13442814 |
P356 | DOI | 10.1080/07391102.2014.999704 |
P698 | PubMed publication ID | 25517796 |
P2093 | author name string | Pasupuleti Santhosh Kumar | |
V Siva Kumar | |||
A Sridhar | |||
Lokanathan Srikanth | |||
Manne Mudhu Sunitha | |||
Sthanikam Yeswanth | |||
Uppu Venkateswara Prasad | |||
Vimjam Swarupa | |||
P V G K Sarma | |||
Katari Venkatesh | |||
Gopal Sowjenya | |||
P Sri Ram Naveen | |||
P2860 | cites work | Familial autosomal recessive renal tubular acidosis: importance of early diagnosis. | Q54353488 |
Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis. | Q54652859 | ||
Secretory-Defect Distal Renal Tubular Acidosis Is Associated with Transporter Defect in H+-ATPase and Anion Exchanger-1 | Q58008974 | ||
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness | Q22008703 | ||
The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools | Q24248165 | ||
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss | Q24315649 | ||
The Protein Data Bank | Q24515306 | ||
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34 | Q24534382 | ||
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PDBsum: summaries and analyses of PDB structures | Q24608528 | ||
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Distal renal tubular acidosis with severe hypokalaemia, probably caused by colonic H(+)-K(+)-ATPase deficiency | Q28365644 | ||
New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies | Q34068233 | ||
Hereditary distal renal tubular acidosis: new understandings | Q34132029 | ||
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Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma | Q34392028 | ||
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes | Q34477945 | ||
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis | Q35441615 | ||
Degradation mechanism of a Golgi-retained distal renal tubular acidosis mutant of the kidney anion exchanger 1 in renal cells. | Q38985667 | ||
Endolymphatic sac enlargement in a girl with a novel mutation for distal renal tubular acidosis and severe deafness | Q42322736 | ||
Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis | Q44452913 | ||
Novel frame shift mutations ('A' deletion) observed in exon 9 of Wilms' tumor (WT1) gene in a patient reported with glomerulosclerosis | Q48002615 | ||
An evaluation of automated homology modelling methods at low target template sequence similarity | Q48400519 | ||
Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children | Q50459655 | ||
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. | Q50465798 | ||
ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. | Q50485261 | ||
The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction. | Q52585950 | ||
P433 | issue | 10 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | deafness | Q12133 |
distal renal tubular acidosis | Q2896802 | ||
renal tubular acidosis | Q1516211 | ||
P304 | page(s) | 2094-2103 | |
P577 | publication date | 2014-12-17 | |
P1433 | published in | Journal of Biomolecular Structure and Dynamics | Q15754747 |
P1476 | title | Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness | |
P478 | volume | 33 |
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