强直性肌营养不良基因座处正常CTG重复序列范围的不稳定性。 - Suppr

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超能文献

Instability in the normal CTG repeat range at the myotonic dystrophy locus.

作者信息

Meiner A, Thamm B, Strenge S, Froster U

出版信息

J Med Genet. 1998 Sep;35(9):791. doi: 10.1136/jmg.35.9.791.

DOI:10.1136/jmg.35.9.791

PMID:9733048

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051445/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/469f/1051445/63e74e8dbb0d/jmedgene00238-0087-a.jpg

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本文引用的文献

Origin of the expansion mutation in myotonic dystrophy.

Nat Genet. 1993 May;4(1):72-6. doi: 10.1038/ng0593-72.

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

Am J Hum Genet. 1994 Apr;54(4):575-85.

Criteria for establishing the validity of genetic recombination in myotonic dystrophy.

Neurology. 1989 Mar;39(3):420-1. doi: 10.1212/wnl.39.3.420.

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Cell. 1992 Feb 21;68(4):799-808. doi: 10.1016/0092-8674(92)90154-5.

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