scholarly article | Q13442814 |
P356 | DOI | 10.1111/J.1399-0004.2006.00559.X |
P698 | PubMed publication ID | 16433694 |
P2093 | author name string | M Feldman | |
A Elia | |||
A Pierides | |||
M Prikis | |||
C C Deltas | |||
Y Athanasiou | |||
P2860 | cites work | Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness | Q22008703 |
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing | Q24290187 | ||
Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis | Q24300618 | ||
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss | Q24315649 | ||
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34 | Q24534382 | ||
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene | Q24561520 | ||
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis | Q24647772 | ||
A simple salting out procedure for extracting DNA from human nucleated cells | Q27861086 | ||
Genetic diseases of acid-base transporters | Q28217352 | ||
Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification | Q28307228 | ||
Hereditary distal renal tubular acidosis: new understandings | Q34132029 | ||
Inherited distal renal tubular acidosis. | Q34758982 | ||
Distal renal tubular acidosis | Q35691281 | ||
Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA). | Q36008575 | ||
Bilateral spontaneous steinstrasse and nephrocalcinosi associated with distal renal tubular acidosis. | Q39492113 | ||
Siblings with congenital renal tubular acidosis and nerve deafness. | Q41321436 | ||
Bone histology and bone mineral density after correction of acidosis in distal renal tubular acidosis | Q44213036 | ||
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. | Q47307811 | ||
Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. | Q50484806 | ||
ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. | Q50485261 | ||
Long-term follow-up in distal renal tubular acidosis with sensorineural deafness. | Q50493654 | ||
Steinstrasse due to distal renal tubular acidosis with sensorineural deafness. | Q50495305 | ||
Familial distal renal tubular acidosis with neurosensory deafness: early nephrocalcinosis. | Q50560828 | ||
Dehydration and acidosis with calcification at renal tubules | Q60608942 | ||
The syndrome of renal tubular acidosis with nerve deafness | Q67437201 | ||
The development of steinstrassen after ESWL: frequency, natural history, and radiologic management | Q68099812 | ||
Familial infantile renal tubular acidosis and congenital nerve deafness: an autosomal recessive syndrome | Q69630268 | ||
Siblings with renal tubular acidosis and nerve deafness. The first family in Japan | Q70475325 | ||
Spontaneous steinstrasse due to renal tubular acidosis | Q71456987 | ||
P433 | issue | 2 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | deafness | Q12133 |
ossification | Q1121544 | ||
renal tubular acidosis | Q1516211 | ||
distal renal tubular acidosis | Q2896802 | ||
ATPase H+ transporting V1 subunit B1 | Q21124712 | ||
P304 | page(s) | 135-44 | |
P577 | publication date | 2006-02-01 | |
P1433 | published in | Clinical Genetics | Q5133760 |
P1476 | title | Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene | |
P478 | volume | 69 |
Q38911591 | Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders |
Q56761595 | Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children |
Q88564133 | Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations |
Q42322736 | Endolymphatic sac enlargement in a girl with a novel mutation for distal renal tubular acidosis and severe deafness |
Q50430940 | Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. |
Q36902993 | Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families |
Q49561626 | Targeted Deletion of the Ncoa7 Gene Results in Incomplete Distal Renal Tubular Acidosis in Mice |
Q52585950 | The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction. |
Q37879992 | Why is hypercalciuria absent at diagnosis in some children with ATP6V1B1 mutation? |
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