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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
نسخه الکترونیک
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Variants/polymorphisms that have been associated with heritable and acquired forms of amyloidosis, 2021[1-3]

Variants/polymorphisms that have been associated with heritable and acquired forms of amyloidosis, 2021[1-3]
  Number of variants shown
Subunit proteins
Transthyretin (TTR) >138
Prion protein (PrP) >30
Alzheimer precursor protein (APP) 52
Bri2 2
Lysozyme (Lys) 11
Apolipoprotein AI (ApoAI) 22
Apolipoprotein AII (ApoAII) 4
Apolipoprotein CII (ApoCII) 2
Apolipoprotein CIII (ApoCIII) 1
Fibrinogen A-alpha 15
Gelsolin 7
Cystatin C 1
Keratoepithelin/TGF1B1 >40
Beta-2 microglobulin 1
Tumor-associated Ca signal transducer 2 21
Polymorphisms
SAA1/SAA2 5/2
Apo E4/E2  
Other
Pyrin (MEFV) >300
Cryopyrin (CIAS1) 145
TRAPS (TNFR1) 99
Mevalonate kinase (MVK) >162
Presenilin-1 (PS-1)/presenilin-2 (PS-2) 215/15
References:
  1. www.amyloidosismutations.com (Accessed on February 1, 2021).
  2. https://infevers.umai-montpellier.fr/web/ (Accessed on February 1, 2021).
  3. Alzheimer Disease & Frontotemporal Dementia Mutation Database (Accessed on February 1, 2021).

Courtesy of Peter D Gorevic, MD.

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