CNS abnormalities in patients with familial amyloidosis, Finnish type (FAF)

Item

http://www.wikidata.org/entity/Q58249083

description

im Januar 1995 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в січні 1995

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name

CNS abnormalities in patients with familial amyloidosis, Finnish type (FAF)

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CNS abnormalities in patients with familial amyloidosis, Finnish type (FAF)

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type

Item

label

CNS abnormalities in patients with familial amyloidosis, Finnish type (FAF)

@en

CNS abnormalities in patients with familial amyloidosis, Finnish type (FAF)

@nl

prefLabel

CNS abnormalities in patients with familial amyloidosis, Finnish type (FAF)

@en

CNS abnormalities in patients with familial amyloidosis, Finnish type (FAF)

@nl

P1476

CNS abnormalities in patients with familial amyloidosis, Finnish type (FAF)

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P2093

Anna-Maria Seppäläinen

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Hannu Somer

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Jorma Palo

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Laura Hokkanen

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Oili Salonen

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Sari Kiuru

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P2860

Familial multiple sclerosis: MRI findings in clinically affected and unaffected siblings.

Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.

Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay.

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

Mutation in gelsolin gene in Finnish hereditary amyloidosis.

Calcium and polyphosphoinositide control of cytoskeletal dynamics.

Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis.

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.

Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family.

Identification of gelsolin, a Ca2+-dependent regulatory protein of actin gel-sol transformation, and its intracellular distribution in a variety of cells and tissues.

P304

22-30

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P31

scholarly article

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10.3109/13506129509031884

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P433

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P478

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P577

1995-01-01T00:00:00Z

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