Familial amyloidosis causes: Difference between revisions
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=== Common Causes === | === Common Causes === | ||
Common causes of familial amyloidosis may include genetic mutations in:<ref name="pmid8464497">{{cite journal |vauthors=Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ |title=Human lysozyme gene mutations cause hereditary systemic amyloidosis |journal=Nature |volume=362 |issue=6420 |pages=553–7 |date=April 1993 |pmid=8464497 |doi=10.1038/362553a0 |url=}}</ref> | Common causes of familial amyloidosis may include genetic mutations in:<ref name="pmid8464497">{{cite journal |vauthors=Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ |title=Human lysozyme gene mutations cause hereditary systemic amyloidosis |journal=Nature |volume=362 |issue=6420 |pages=553–7 |date=April 1993 |pmid=8464497 |doi=10.1038/362553a0 |url=}}</ref><ref name="Benson2003">{{cite journal|last1=Benson|first1=Merrill D|title=The hereditary amyloidoses|journal=Best Practice & Research Clinical Rheumatology|volume=17|issue=6|year=2003|pages=909–927|issn=15216942|doi=10.1016/j.berh.2003.09.001}}</ref><ref name="Benson20032">{{cite journal|last1=Benson|first1=Merrill D|title=The hereditary amyloidoses|journal=Best Practice & Research Clinical Rheumatology|volume=17|issue=6|year=2003|pages=909–927|issn=15216942|doi=10.1016/j.berh.2003.09.001}}</ref><ref>{{cite book | last = Scriver | first = Charles | title = The metabolic & molecular bases of inherited disease | publisher = McGraw-Hill | location = New York | year = 2001 | isbn = 978-0079130358 }}</ref> | ||
* [[Transthyretin|Transthyretin (TTR)]] | * [[Transthyretin|Transthyretin (TTR)]] | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Hereditary amyloidosis can be caused by genetic mutations in different genes including LYZ gene, fibrinogen A alpha polypeptide gene, FGA gene, APOA1 gene, lysozyme gene, and B2M gene.
Causes
Common Causes
Common causes of familial amyloidosis may include genetic mutations in:[1][2][3][4]
- Transthyretin (TTR)
- Apolipoprotein AI
- Apolipoprotein AII
- Fibrinogen Aa
- Lysozyme
- Gelsolin
- Cystatin C
References
- ↑ Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ (April 1993). "Human lysozyme gene mutations cause hereditary systemic amyloidosis". Nature. 362 (6420): 553–7. doi:10.1038/362553a0. PMID 8464497.
- ↑ Benson, Merrill D (2003). "The hereditary amyloidoses". Best Practice & Research Clinical Rheumatology. 17 (6): 909–927. doi:10.1016/j.berh.2003.09.001. ISSN 1521-6942.
- ↑ Benson, Merrill D (2003). "The hereditary amyloidoses". Best Practice & Research Clinical Rheumatology. 17 (6): 909–927. doi:10.1016/j.berh.2003.09.001. ISSN 1521-6942.
- ↑ Scriver, Charles (2001). The metabolic & molecular bases of inherited disease. New York: McGraw-Hill. ISBN 978-0079130358.