Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy
about
The IC3D classification of the corneal dystrophiesLate onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I.Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type).Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin.Mutation in gelsolin gene in Finnish hereditary amyloidosis.Immunohistochemical analysis of lattice corneal dystrophies types I and II.Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin TypeFinnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin.Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studiesFamilial amyloidotic polyneuropathy type IV – gelsolin amyloidosisPostmortem pathological findings in a Japanese patient with familial amyloidosis, Finnish type (FAF)
P2860
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P2860
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy
description
1979 nî lūn-bûn
@nan
1979年の論文
@ja
1979年論文
@yue
1979年論文
@zh-hant
1979年論文
@zh-hk
1979年論文
@zh-mo
1979年論文
@zh-tw
1979年论文
@wuu
1979年论文
@zh
1979年论文
@zh-cn
name
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy
@en
type
label
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy
@en
prefLabel
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy
@en
P2093
P2860
P356
P1476
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy
@en
P2093
Kamieniecka Z
Schlaeger J
Trojaborg W
P2860
P304
P356
10.1136/JNNP.42.11.1020
P407
P577
1979-11-01T00:00:00Z