Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations-Reference-Cited by-同舟云学术

Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations

Published:2014-08-04 Issue:9 Volume:35 Page:E2403-E2412
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Rowczenio Dorota M.¹,Noor Islam¹,Gillmore Julian D.¹,Lachmann Helen J.¹,Whelan Carol¹,Hawkins Philip N.¹,Obici Laura²,Westermark Per³,Grateau Gilles⁴,Wechalekar Ashutosh D.¹

Affiliation:

1. Centre for Amyloidosis and Acute Phase Proteins; University College London Medical School; London UK

2. Amyloidosis Research and Treatment Centre; Fondazione IRCCS Policlinico San Matteo Viale Golgi; Pavia Italy

3. Department of Immunology, Genetics and Pathology, Rudbeck Laboratory; Uppsala University; Uppsala Sweden

4. Service de médecine interne; hôpital Tenon assistance publique hôpitaux de Paris université Paris 6 Pierre et Marie Curie; Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference33 articles.

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2. A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene;Benson;Genomics,2001

3. Transthyretin amyloidosis;Benson;Amyloid: Int J Exp Clin Invest,1996

4. A new apolipoprotein AI variant, Trp50Arg, causes hereditary amyloidosis;Booth;Q J Med,1995

5. Tabulation of human transthyretin (TTR) variants, 2003;Connors;Amyloid,2003

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