SLC4A4 compound heterozygous mutations in exon–intron...

BMC Medical Genetics 2018 / 12 Vol. 19; Iss. 1

SLC4A4 compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case report

Horita, Shoko, Simsek, Enver, Simsek, Tulay, Yildirim, Nilgun, Ishiura, Hiroyuki, Nakamura, Motonobu, Satoh, Nobuhiko, Suzuki, Atsushi, Tsukada, Hiroyuki, Mizuno, Tomohito, Seki, George, Tsuji, Shoji,
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Volume:
19
Language:
english
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-018-0612-y
Date:
December, 2018
File:
PDF, 1.22 MB
english, 2018
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