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Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family

BACKGROUND: A 3 bp deletion located at the 5′ end of exon 3 of MLH1, resulting in deletion of exon 3 from RNA, was recently identified. HYPOTHESIS: That this mutation disrupts an exon splicing enhancer (ESE) because it occurs in a purine‐rich sequence previously identified as an ESE in other genes,...

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Xehetasun bibliografikoak
Egile Nagusiak: McVety, S, Li, L, Gordon, P H, Chong, G, Foulkes, W D
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Group 2006
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564635/
https://ncbi.nlm.nih.gov/pubmed/15923275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.031997
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