Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.

Marcão, A; Amaral, O; Pinto, E; Pinto, R; Sá Miranda, M C

Marcão, A; Amaral, O; Pinto, E; Pinto, R; Sá Miranda, M C.

Affiliation

Marcão A; Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhães, Oporto, Portugal.

Hum Mutat ; 13(4): 337-8, 1999.

Article in En | MEDLINE | ID: mdl-10220151

Subject(s)

Leukodystrophy, Metachromatic/genetics; Gene Deletion; Humans; Mutation, Missense; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Portugal

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Collection: 01-internacional Database: MEDLINE Main subject: Leukodystrophy, Metachromatic Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Country/Region as subject: Europa Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 1999 Document type: Article Affiliation country: Portugal Country of publication: United States

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