(Q74674058)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12199804%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12199804%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

2

Jamie Craig

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12199804%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

Janet L McLeod

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12199804%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Sarah Gumley

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12199804%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Sarah Roberts

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12199804%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Mark A Kirkland

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12199804%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

language of work or name

English

0 references

publication date

1 September 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12199804%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Haematology

12 November 2019

published in

1 reference

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12 November 2019

volume

118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12199804%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12199804%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

1179-1182

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12199804%20AND%20SRC:MED&resulttype=core&format=json

10.1046/J.1365-2141.2002.03690.X

12 November 2019

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12199804%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference