Erratum to: Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations

نویسندگان

  • Jiro Kin
  • Hiroyasu Tsukaguchi
  • Takahisa Kimata
  • Huan Thanh Nguyen
  • Yorika Nakano
  • Noriko Miyake
  • Naomichi Matsumoto
  • Kazunari Kaneko
چکیده

Erratum In the original version of this article [1], published on 6 July 2017, the incorrect nomenclature “c.5077_5078insCCAG p.Gly1693Alafs*8” was used for the truncating mutation caused by the four-base pair change. The correct nomenclature for this mutation should be “c.5073_5076dup p. Gly1693Profs*8”, according to the sequence variant nomenclature of Human Genome Variant Society (HGVS: http:// varnomen.hgvs.org/) as well as the Human Gene Mutation Database (HGMD: www.hgmd.org). The correction of the nomenclature doesn’t impact the conclusion of the article. The extra 4 four-base-pair Indel, even in either original (mistakenly interpreted as the “CCAG” is inserted between the first [G] and second base [G] of Gly codon 1693 [GGT]: ∨ indicates the place where the mutation arises) or corrected nomenclature (“CCAG” is duplicated just one base-pair upstream to the first base [G] of Gly codon 1693 [∨GGT]), gives rise to the biologically same, frame-shift, truncated, “Null” LAMB2 protein. The original version of this article [1] also contains a typographical error in the "Genetic analysis" and an additional error in the caption of "Fig. 2", where the words "paternal" and "maternally" are mixed up. In this Erratum the original nomenclature has been listed (bold) and the corrected nomenclature has also been listed (bold). The same has been done for the typographical error and the additional error. The typographical error has been corrected in the original publication. The nomenclature and the additional correction were not corrected in the original article.

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Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations

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عنوان ژورنال:

دوره 18  شماره 

صفحات  -

تاریخ انتشار 2017