Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations

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.

1. Hereditary renal amyloidosis associated with a mutant fibrinogen a-chain;Benson;Nature Genetics,1993

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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