๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease

โœ Scribed by Toshiyuki Yamamoto; Eiji Nanba


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
10 KB
Volume
14
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


A new missense mutation in exon 6 of the
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

Family with Pelizaeus-Merzbacher disease
โœ Bond, Cherie; Si, Xiaoli; Crisp, Margaret; Wong, Paul; Paulson, George W.; Boese ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 28 KB ๐Ÿ‘ 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

New variant in exon 3 of the proteolipid
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