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Two novel mutations (10410 T→G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation

✍ Scribed by Milena Cau; Antonio Cao; Daniela Loi; Alberto Puddu; Francesco Muntoni; Anna Mateddu; Maria Antonietta Melis

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 170 KB
Volume: 12
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1998)12:1<70::aid-humu13>3.0.co;2-g

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✦ Synopsis

In this study we have carried out a mutational screening of exons 62-79 of the dystrophin gene by SSCP in 38 italian patients with DMD/BMD and found two novel mutations at exon 70, in 2 mentally retarded DMD patients.

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Protein truncation test: Analysis of two

Protein truncation test: Analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation

✍ Sylvie Tuffery; Uwe Lenk; Roland G. Roberts; Christine Coubes; Jacques Demaille; 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 947 KB

Approximately one-third of the mutations responsible for Duchenne muscular dytrophy (DMD) do not involve gross rearrangements of the dystrophin gene. Methods for intensive mutation screening have recently been applied to this immense gene, which resulted in the identification of a number of point mu