Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His.

Blevins, G; Macaulay, R; Harder, S; Fladeland, D; Yamashita, T; Yazaki, M; Hamidi Asl, K; Benson, M D; Donat, J R

Blevins, G; Macaulay, R; Harder, S; Fladeland, D; Yamashita, T; Yazaki, M; Hamidi Asl, K; Benson, M D; Donat, J R.

Affiliation

Blevins G; Neuroimmunology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

Neurology ; 60(10): 1625-30, 2003 May 27.

Article in En | MEDLINE | ID: mdl-12771253

Subject(s)

Amino Acid Substitution; Amyloidosis, Familial/genetics; Meninges/pathology; Mutation, Missense; Prealbumin/genetics; Vitreous Body/pathology; Adult; Aged; Amyloidosis, Familial/complications; Amyloidosis, Familial/pathology; DNA Mutational Analysis; Epilepsy, Complex Partial/etiology; Fatal Outcome; Female; Genes, Dominant; Humans; Male; Meninges/chemistry; Middle Aged; Pedigree; Point Mutation; Polymorphism, Restriction Fragment Length; Polymorphism, Single-Stranded Conformational; Prealbumin/analysis; Status Epilepticus/etiology; Vitreous Body/chemistry

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Collection: 01-internacional Database: MEDLINE Main subject: Vitreous Body / Prealbumin / Amino Acid Substitution / Mutation, Missense / Amyloidosis, Familial / Meninges Type of study: Etiology_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: Neurology Year: 2003 Document type: Article Affiliation country: United States Country of publication: United States

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