Reviewer's report
Title:Truncating mutations in the Wilson disease gene ATP7B are associated
with very low serum ceruloplasmin oxidase activity and an early onset of Wilson
disease
Version: 1Date:27 November 2009
Reviewer: Maria Tzetis
Reviewer's report:
The authors have genotyped a group of 59 WD patients well characterized
clinically and biochemically and they correlate the oxidase activity of serum
ceruloplasmin as an accurate indicator of severe (truncating , frameshift
mutations). The article is well written and the concept is of interest to readers.
Minor essential revisions
The authors should report all mutations according to the new nomenclature. For
instance IVS4-1g>a. Generally they should recheck the portion of the manuscript
that mutation names are mentioned.
Level of interest: An article whose findings are important to those with closely
related research interests
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
'I declare that I have no competing interests'
Reviewer's report
Title:Truncating mutations in the Wilson disease gene ATP7B are associated
with very low serum ceruloplasmin oxidase activity and an early onset of Wilson
disease
Version: 1Date:27 November 2009
Reviewer: Maria Tzetis
Reviewer's report:
The authors have genotyped a group of 59 WD patients well characterized
clinically and biochemically and they correlate the oxidase activity of serum
ceruloplasmin as an accurate indicator of severe (truncating , frameshift
mutations). The article is well written and the concept is of interest to readers.
Minor essential revisions
The authors should report all mutations according to the new nomenclature. For
instance IVS4-1g>a. Generally they should recheck the portion of the manuscript
that mutation names are mentioned.
Level of interest: An article whose findings are important to those with closely
related research interests
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
'I declare that I have no competing interests'
Please review this paper.
user
Reviewer's report
Title:Truncating mutations in the Wilson disease gene ATP7B are associated
with very low serum ceruloplasmin oxidase activity and an early onset of Wilson
disease
Version: 1Date:27 November 2009
Reviewer: Maria Tzetis
Reviewer's report:
The authors have genotyped a group of 59 WD patients well characterized
clinically and biochemically and they correlate the oxidase activity of serum
ceruloplasmin as an accurate indicator of severe (truncating , frameshift
mutations). The article is well written and the concept is of interest to readers.
Minor essential revisions
The authors should report all mutations according to the new nomenclature. For
instance IVS4-1g>a. Generally they should recheck the portion of the manuscript
that mutation names are mentioned.
Level of interest: An article whose findings are important to those with closely
related research interests
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
'I declare that I have no competing interests'
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