๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene

โœ Scribed by Pratt, Victoria M. ;Boyadjiev, Simon ;Dlouhy, Stephen R. ;Silver, Kenneth ;Kaloustian, Vazken M. Der ;Hodes, M. E.

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
306 KB
Volume
55
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

๐Ÿ“œ 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
โœ Chiaki Kawanishi; Hitoshi Osaka; Kenji Owa; Ken Inoue; Tomohiro Miyakawa; Hideki ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 84 KB ๐Ÿ‘ 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

New variant in exon 3 of the proteolipid
New variant in exon 3 of the proteolipid protein (PLP) gene in a family with pelizaeus-merzbacher disease
โœ Pratt, Victoria M. ;Trofatter, James A. ;Larsen, Marianne B. ;Hodes, M. E. ;Dlou ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 357 KB ๐Ÿ‘ 2 views

A C --> G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-Merzbacher disease (PMD). The transversion should not result in an amino acid change in the protein but it does result in the loss of a HaeIII restriction endonucleas