✦ LIBER ✦

A point mutation in the 5′ splice site of the first intron of the dystrophin gene responsible for X-linked dilated cardiomyopathy

✍ Scribed by Jelena Milasin; Francesco Muntoni; Giovanni Maria Severini; Lucia Bartoloni; Matteo Vatta; Maja Krajinovic; Corrado Angelini; Anna Mateddu; Fulvio Camerini; Arturo Falaschi; Luisa Mestroni; Mauro Giacca

Book ID: 118585652
Publisher: Elsevier Science
Year: 1996
Tongue: English
Weight: 141 KB
Volume: 27
Category: Article
ISSN: 1558-3597
DOI: 10.1016/s0735-1097(96)81776-1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Comprehensive mutation scanning of the d

Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy

✍ Jinong Feng; Jin Yan; Carolyn H Buzin; Steve S Sommer; Jeffrey A Towbin 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 87 KB

A Novel Alu-Like Element Rearranged in t

A Novel Alu-Like Element Rearranged in the Dystrophin Gene Causes a Splicing Mutation in a Family with X-Linked Dilated Cardiomyopathy

✍ Alessandra Ferlini; Nazzareno Galié; Luciano Merlini; Caroline Sewry; Angelo Bra 📂 Article 📅 1998 🏛 American Society of Human Genetics 🌐 English ⚖ 616 KB

Association of nonsense mutation of dyst

Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy

✍ Wolfgang-Michael Franz; Matthias Muller; Oliver J Muller; Ralf Herrmann; Thomas 📂 Article 📅 2000 🏛 The Lancet 🌐 English ⚖ 121 KB

Point mutations in the dystrophin gene:

Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects

✍ Sylvie Tuffery-Giraud; Sylvie Chambert; Jacques Demaille; Mireille Claustres 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 363 KB 👁 2 views

Ten different mutations have been identified in patients with Becker (n = 1) or Duchenne (n = 9) muscular dystrophy using reverse transcription of total RNA, polymerase chain reaction amplification of the whole coding region of the gene and protein truncation test (PTT) analysis. Seven mutations had

Identification of a 5′ splice site mutat

Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)

✍ Katherine L. Dry; Forbes D.C. Manson; Alan Lennon; Arthur A.B. Bergen; Dieuwke B 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 332 KB 👁 2 views

Communicated by

Donor splice site mutation in intron 5 o

Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease

✍ H. A. Özkara; B. R. Akerman; G. Ciliv; M. Topçu; Y. Renda; R. A. Gravel 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB 👁 1 views