✦ LIBER ✦

Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family

✍ Scribed by Vilma Kaplanová; Jiřı́ Zeman; Hana Hansı́ková; Leona Černá; Hana Houšt'ková; Naděžda Mišovicová; Josef Houštěk

Book ID: 119301444
Publisher: Elsevier Science
Year: 2004
Tongue: English
Weight: 213 KB
Volume: 223
Category: Article
ISSN: 0022-510X
DOI: 10.1016/j.jns.2004.05.001

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Segregation of the ND4/11778 and the ND1

Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families

✍ Anu Puomila; Tommi Viitanen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Kirsi Hu 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 153 KB

Strikingly different penetrance of LHON

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

✍ Hua-Wei Wang; Xiaoyun Jia; Yanli Ji; Qing-Peng Kong; Qingjiong Zhang; Yong-Gang 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 539 KB

Differential Segregation of β + IVS‐I‐11

Differential Segregation of β + IVS‐I‐110 (G→A), A γ − 117 (G→A), and G γ − 158 (C→T) Mutations in Members of an Albanian Family

✍ Cappabianca, Maria P.; Foglietta, Enrica; Grisanti, Paola; Mastropietro, Fabrizi 📂 Article 📅 2003 🏛 Informa plc 🌐 English ⚖ 122 KB

Homoplasmy of the G7444A mtDNA and heter

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

✍ Haris Kokotas; Maria Grigoriadou; Li Yang; Marianne Lodahl; Nanna Dahl Rendtorff 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 186 KB

The A1555G Mutation in the 12S rRNA Gene

The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness

✍ Antonio Torroni; Fulvio Cruciani; Chiara Rengo; Daniele Sellitto; Núria López-Bi 📂 Article 📅 1999 🏛 American Society of Human Genetics 🌐 English ⚖ 107 KB

Pyrrole-imidazole polyamide, a synthetic

Pyrrole-imidazole polyamide, a synthetic DNA-binding compound, is effective at increasing levels of wild-type mtDNA in both cybrid cells and MELAS patient-derived fibroblast cells with the MELAS A3243G mutation by a selective promotion of wild-type replication

✍ Yano, Takamitsu; Takeuchi-Tomita, Nono; Ueda, Takuya; Haas, Richard H. 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 61 KB