𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Magnetic resonance imaging of a unique mutation in a family with Pelizaeus–Merzbacher disease

✍ Scribed by Elka Miller; Elysa Widjaja; Daniel Nilsson; Grace Yoon; Brenda Banwell; Susan Blaser

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
187 KB
Volume
152A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A new missense mutation in exon 6 of the
A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease
✍ Chiaki Kawanishi; Hitoshi Osaka; Kenji Owa; Ken Inoue; Tomohiro Miyakawa; Hideki 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 84 KB 👁 2 views

Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of

Nonsense mutation in exon 3 of the prote
Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease
✍ Hodes, M. E.; Blank, C. A.; Pratt, V. M.; Morales, J.; Napier, J.; Dlouhy, S. R. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB 👁 2 views

We report a G→A transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease (PMD). The mutation, which creates a second AluI restriction site, results in a nonsense mutation in PLP. The clinical pictu

Family with Pelizaeus-Merzbacher disease
Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene
✍ Bond, Cherie; Si, Xiaoli; Crisp, Margaret; Wong, Paul; Paulson, George W.; Boese 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 2 views

We report on a C-to-T transition in exon 6 of the PLP gene in a male with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. The transition changes a glutamine at amino acid residue 233 to a termination codon. This premature stop codon probably results in a truncated protein that is not funct