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ALys amyloidosis caused by compound heterozygosity in Exon 2 (Thr70Asn) and Exon 4 (Trp112Arg) of th...

ALys amyloidosis caused by compound heterozygosity in Exon 2 (Thr70Asn) and Exon 4 (Trp112Arg) of th...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70194080

ALys amyloidosis caused by compound heterozygosity in Exon 2 (Thr70Asn) and Exon 4 (Trp112Arg) of the lysozyme gene

About this item

Full title

ALys amyloidosis caused by compound heterozygosity in Exon 2 (Thr70Asn) and Exon 4 (Trp112Arg) of the lysozyme gene

Publisher

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Journal title

Human mutation, 2006-01, Vol.27 (1), p.119-120

Language

English

Formats

Publication information

Publisher

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

More information

Scope and Contents

Contents

Hereditary amyloidoses are caused by germline mutations, which increase the propensity of a protein to form cross‐β aggregates and deposit as amyloid. Hereditary amyloidoses are particularly interesting as they help to understand how changes in the primary structure of an otherwise non‐amyloidogenic protein contribute to amyloidogenesis. Here we re...

Alternative Titles

Full title

ALys amyloidosis caused by compound heterozygosity in Exon 2 (Thr70Asn) and Exon 4 (Trp112Arg) of the lysozyme gene

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_70194080

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70194080

Other Identifiers

ISSN

1059-7794

E-ISSN

1098-1004

DOI

10.1002/humu.9393

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