Unstable expansion of the CAG trinucleotide repeat in MAB21L1: report of a second pedigree and effect on protein expression

MAB21L1, originally termed CAGR1, is the human homologue of the C elegans cell fate determining gene mab21. MAB21L1, mapped to 13q13, contains a highly polymorphic 5' untranslated CAG repeat that normally ranges from six to 31 triplets in length. A pedigree has been previously reported in which...

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Detalhes bibliográficos
Main Authors: Margolis, R., Stine, O, Ward, C., Franz, M., Rosenblatt, A., Callahan, C., Sherr, M., Ross, C., Potter, N.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 1999
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1762960/
https://ncbi.nlm.nih.gov/pubmed/9950369
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