Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations

McLeod, Janet L, Craig, Jamie, Gumley, Sarah, Roberts, Sarah and Kirkland, Mark A 2002, Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations, British journal of haematology, vol. 118, no. 4, pp. 1179-1182, doi: 10.1046/j.1365-2141.2002.03690.x.

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Title Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations
Author(s) McLeod, Janet L
Craig, Jamie
Gumley, Sarah
Roberts, Sarah
Kirkland, Mark A
Journal name British journal of haematology
Volume number 118
Issue number 4
Start page 1179
End page 1182
Total pages 4
Publisher Blackwell Science
Place of publication Oxford, Eng.
Publication date 2002-09
ISSN 0007-1048
Keyword(s) adult
Australia
cataract
child
DNA mutational analysis
female
ferritins
hereditary hyperferritinaemia–cataract syndrome
human body
iron-regulatory proteins
iron-responsive element
L-ferritin
male
middle aged
novel mutation
pedigree
syndrome
Language eng
DOI 10.1046/j.1365-2141.2002.03690.x
Field of Research 1102 Cardiovascular Medicine And Haematology
HERDC Research category C1.1 Refereed article in a scholarly journal
Copyright notice ©2002, Blackwell Science
Persistent URL http://hdl.handle.net/10536/DRO/DU:30101094

Document type: Journal Article
Collections: Institute for Frontier Materials
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