Distal renal tubular acidosis caused by tryptophan‐aspartate repeat domain 72 (WDR72) mutations

Hereditary distal renal tubular acidosis (dRTA) is a rare genetic disease that is caused by mutations in SLC4A1, ATP6V1B1, or ATP6V0A4. However, there are many families with hereditary dRTA in whom the disease‐causing genes are unknown. Accordingly, we performed whole exome sequencing and genetic st...

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Veröffentlicht in:	Clinical genetics 2018-11, Vol.94 (5), p.409-418
Hauptverfasser:	Rungroj, N., Nettuwakul, C., Sawasdee, N., Sangnual, S., Deejai, N., Misgar, R.A., Pasena, A., Khositseth, S., Kirdpon, S., Sritippayawan, S., Vasuvattakul, S., Yenchitsomanus, PT
Format:	Artikel
Sprache:	eng
Schlagworte:	Acidosis distal renal tubular acidosis dRTA Etiology Literature reviews Mutagenesis Mutation Nonsense mutation Protein structure Renal tubular acidosis Tryptophan tryptophan‐aspartate repeat domain 72 vesicle trafficking defect WDR72 whole exome sequencing
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