✦ LIBER ✦

Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations

✍ Scribed by Sascha Fauser; Janina Luberichs; Dorothea Besch; Beate Leo-Kottler

Book ID: 117052145
Publisher: Elsevier Science
Year: 2002
Tongue: English
Weight: 78 KB
Volume: 295
Category: Article
ISSN: 0006-291X
DOI: 10.1016/s0006-291x(02)00672-1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Sequence analysis of the complete mitoch

Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations

✍ Paola Da Pozzo; Elena Cardaioli; Elena Radi; Antonio Federico 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 376 KB

Leber's Hereditary Optic Neuropathy: The

Leber's Hereditary Optic Neuropathy: The Spectrum of Mitochondrial DNA Mutations in Iranian Patients

✍ M HOUSHMAND; F SHARIFPANAH; A TABASI; M-H SANATI; M VAKILIAN; SH LAVASANI; S JOU 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 205 KB

A new mitochondrial DNA mutation in the

A new mitochondrial DNA mutation in the tRNA leucine 1 gene (C3275A) in a patient with Leber's hereditary optic neuropathy

✍ Jose-Raul Garcia-Lozano; Isabel Aguilera; Juan Bautista; Antonio Nuñez-Roldan 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 2 views

Detection of the G to A mitochondrial DN

Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy

✍ B. A. Kormann; H. Schuster; T. A. Berninger; B. Leo-Kottler 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 342 KB

Leber's hereditary optic neuropathy (LHON) is characterized by acute or subacute bilateral (usually permanent) loss of central vision, caused by neuroretinal degeneration. The maternal inheritance is explained by the mitochondrial origin of the disease. Recently, a single mitochondrial DNA (mtDNA) m

Clinical evaluation and sequence analysi

Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation

✍ Lidong Zhao; Wie-Yen Young; Roughua Li; Qiuju Wang; Yaping Qian; Min-Xin Guan 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 542 KB

Comparison of the complete mtDNA genome

Comparison of the complete mtDNA genome sequences of human cell lines – HL-60 and GM10742A – from individuals with pro-myelocytic leukemia and leber hereditary optic neuropathy, respectively, and the inclusion of HL-60 in the NIST human mitochondrial DNA standard reference material – SRM 2392-I

✍ Barbara C. Levin; Koren A. Holland; Diane K. Hancock; Michael Coble; Thomas J. P 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 601 KB