๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Connatal Pelizaeus-Merzbacher disease: A missense mutation in exon 4 of theproteolipid protein(PLP) gene

โœ Scribed by M. Nagao; Jun-ichi Kadowaki


Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
132 KB
Volume
43
Category
Article
ISSN
1435-232X

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

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

Nonsense mutation in exon 3 of the prote
โœ Hodes, M. E.; Blank, C. A.; Pratt, V. M.; Morales, J.; Napier, J.; Dlouhy, S. R. ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 180 KB ๐Ÿ‘ 2 views

We report a Gโ†’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

Girl with signs of Pelizaeus-Merzbacher
โœ Hodes, M. E. ;Demyer, William E. ;Pratt, Victoria M. ;Edwards, Mary K. ;Dlouhy, ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 582 KB

W e studied a female infant with clinical signs of Pelizaeus-Merzbacher disease (PMD), who has a familial mutation (C41+T) in exon 2 of the proteolipid protein gene (PLP), and selected relatives. While the carrier mother and grandmother of the proposita currently are neurologically normal and show n