Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive m...
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS
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Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
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Publication information
Publisher
Dordrecht: Springer Netherlands
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Scope and Contents
Contents
Background
Recessive
LARS
mutations were recently reported to cause a novel syndrome, infantile liver failure syndrome type 1 (ILFS1), in six Irish Travellers. We have since identified four additional patients, including one of Ashkenazi origin, representing the largest ILFS1 cohort to date. Our study aims to define the ILFS1 clinical phen...
Alternative Titles
Full title
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS
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Record Identifier
TN_cdi_proquest_miscellaneous_1768585807
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1768585807
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-015-9849-1
