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A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

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Date
2015
Author
Nagara, Majdi
Voskarides, Konstantinos
Elouej, S.
Zaravinos, Apostolos
Riahi, Zied
Papagregoriou, Gregory N.
Kefi Ben Atig, Rym
Boussetta, Khadija
ORCID logoConstantinou-Deltas, Constantinos D.
Abdelhak, S.
Tinsa, Faten
Source
Journal of Genetics
Volume
93
Pages
859-863

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Keyword(s):
child
Male
Humans
adult
genetics
Mutation
Tunisia
consanguinity
dna mutational analysis
Novel mutation
Vacuolar Proton-Translocating ATPases
Distal renal tubular acidosis (dRTA)
RNA Splice Sites
acidosis, renal tubular
ATP6V0A4
ATP6V0A4 protein, human
Donor splice site
High-Throughput Nucleotide Sequencing
physiopathology
Siblings
Tunisian population

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https://www.scopus.com/inward/record.uri?eid=2-s2.0-84925478117&partnerID=40&md5=30dae207eaf0fe236ff8bd7ef4d8a285
URI
http://gnosis.library.ucy.ac.cy/handle/7/53264
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