Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.
about
The 8 and 5 kDa fragments of plasma gelsolin form amyloid fibrils by a nucleated polymerization mechanism, while the 68 kDa fragment is not amyloidogenicFurin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilizationGenetics and the pathobiology of ageing.Immunohistochemical analysis of lattice corneal dystrophies types I and II.Gene mutations in inherited amyloidopathies of the nervous system.Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.
P2860
Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.
description
1991 nî lūn-bûn
@nan
1991 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Finnish type of familial amylo ...... sease in three large families.
@ast
Finnish type of familial amylo ...... sease in three large families.
@en
type
label
Finnish type of familial amylo ...... sease in three large families.
@ast
Finnish type of familial amylo ...... sease in three large families.
@en
prefLabel
Finnish type of familial amylo ...... sease in three large families.
@ast
Finnish type of familial amylo ...... sease in three large families.
@en
P2093
P2860
P1476
Finnish type of familial amylo ...... sease in three large families.
@en
P2093
P2860
P304
P407
P577
1991-09-01T00:00:00Z