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

Object Details

• Location: Deutsche Nationalbibliothek Frankfurt am Main
• ISSN: 1471-2350
• Extent: Online-Ressource
• Language: Englisch
• Notes: online resource.

References and Relationships

• Bibliographic citation: 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 ; volume:19 ; number:1 ; day:18 ; month:6 ; year:2018 ; pages:1-9 ; date:12.2018 ; BMC medical genetics ; 19, Heft 1 (18.6.2018), 1-9, 12.2018

Contributors, Places and Time

• Creator: Horita, Shoko
• Contributor: Simsek, Enver ; Simsek, Tulay ; Yildirim, Nilgun ; Ishiura, Hiroyuki ; Nakamura, Motonobu ; Satoh, Nobuhiko ; Suzuki, Atsushi ; Tsukada, Hiroyuki ; Mizuno, Tomohito ; Seki, George ; Tsuji, Shoji ; Nangaku, Masaomi ; SpringerLink (Online service)

Further information

• DOI: 10.1186/s12881-018-0612-y
• URN: urn:nbn:de:101:1-2018082823403088158174
• Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Last update: 15.08.2025, 7:32 AM CEST