Giant SCA8 alleles in nine children whose mother has two moderately large ones

Autor:	David Genís, Hector San Nicolás, Isabel Banchs, Victor Volpini, Jordi Corral, Judith Armstrong
Rok vydání:	2005
Předmět:	Genetics Neurology law RNA Neurology (clinical) Allele Biology Trinucleotide repeat expansion Gene Penetrance Polymerase chain reaction law.invention
Zdroj:	Annals of Neurology. 57:549-553
ISSN:	0364-5134
DOI:	10.1002/ana.20421
Popis:	We report here a family in which each of nine children has inherited giant SCA8 CTG expansions from a homozygous mother who has two moderately large SCA8 CTG alleles. In contrast, three homozygous male individuals and a case of coexistence of two expansions of the FRDA gene and one of SCA8, all of them with moderately large alleles, have transmitted their respective SCA8 expanded alleles with minor changes, as usually occurs in heterozygous male transmissions.
Databáze:	OpenAIRE
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