Erratum: Correction of error in result: Urological problems in patients with Menkes disease [J Korean Med Sci., 34, 1, (e4)] Doi: 10.3346/jkms.2019.34.e4

Research output: Contribution to journalComment/debate

Abstract

To the Editor: The authors regret that there was an important error in the results in Table 1; the ATP7A mutations detected in Patients 2 and 14 were incorrectly noted. The corrected notation of the mutations is as follows: 1) The c.1303delA (p.A434Qfs*2) mutation detected in Patient 2 should be changed to c.1303delA (p.Ile435*). 2) Patient 14 had a previously known mutation, i.e., c.3257delA (p.His1086Profs*3); c.4048G>A (p.E1350K) is a common single nucleotide polymorphism detected together with the mutation. Accordingly, corrections in the main text are needed as follows: 1) In the first paragraph of "Mutational analyses of the ATP7A gene" on page 3, "2 missense mutations," "2 frame-shifting short deletions," and "Seven mutations were novel" should be changed to "1 missense mutation," "3 frame-shifting short deletions nonsense mutations," and "Six mutations were novel." 2) The last sentence in the first paragraph of the "Discussion" section, "Patient 14 in our study had a missense mutation in ATP7A," should be changed to "Patient 14 in our study had a frame-shifting short deletion mutation in ATP7A.".

Original languageEnglish
Article numbere154
JournalJournal of Korean Medical Science
Volume34
Issue number20
DOIs
StatePublished - 27 May 2019

Bibliographical note

Publisher Copyright:
© 2019 The Korean Academy of Medical Sciences.

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