Diagnosis of familial amyloid polyneuropathy type I in Argentina

Familial amyloid polyneuropathy (FAP) is an autosomal dominant inherited disease, characterized by systemic deposition of amyloid fibrils in various tissues, especially in peripheral nerves, being a variant of transthyretin (TTR) the principal component of amyloid fibrils. TTR is a normal plasma pro...

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Detalles Bibliográficos
Autores principales: Pérez, Gladys Mabel, Nesse, Alcira Beatriz
Publicado: 2008
Materias:
Familial amyloidotic polyneuropathy
Transthyretin
TTR Val30Met mutation
amyloid
methionine
prealbumin
retinol
thyroxine
valine
adolescent
adult
amino acid substitution
Argentina
article
autosomal dominant disorder
clinical article
diagnostic procedure
early diagnosis
familial amyloid polyneuropathy
female
gene amplification
gene mutation
human
liver transplantation
male
methodology
peripheral nerve
protein function
ethnology
genetics
mass screening
mutation
polymerase chain reaction
Portugal
restriction fragment length polymorphism
Adolescent
Adult
Amyloid Neuropathies, Familial
Female
Humans
Male
Mass Screening
Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Prealbumin
Young Adult
Acceso en línea:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v68_n4_p273_Perez
http://hdl.handle.net/20.500.12110/paper_00257680_v68_n4_p273_Perez
Aporte de:
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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