Adrenoleukodystrophy (ALD) is a peroxisomal disorder that commonly manifests as demyelination of the central nervous system (CNS). The isolation of the ALD gene by positional cloning has led to the identification of a variety of mutations in the ALD gene. One hundred and ten mutations have been iden
β¦ LIBER β¦
Novel missense and frameshift mutations in the adrenoleukodystrophy gene
β Scribed by Hisao Ueyama; Tsunekazu Yamano; Morimi Shimada; Iwao Ohkubo
- Publisher
- Nature Publishing Group
- Year
- 1996
- Tongue
- English
- Weight
- 380 KB
- Volume
- 41
- Category
- Article
- ISSN
- 1435-232X
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Mutations in the adrenoleukodystrophy ge
β
Andrew Dodd; Shelley A. Rowland; Sheryl L. J. Hawkes; Martin A. Kennedy; Donald
π
Article
π
1997
π
John Wiley and Sons
π
English
β 182 KB
π 2 views
Novel missense and frameshift mutations
β
Daniel J. Klaus; Carol J. Gallione; Kara Anthony; Eric Y. Yeh; Jing Yu; Andreas
π
Article
π
1998
π
John Wiley and Sons
π
English
β 47 KB
π 3 views
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent hemorrhage. One of the causative genes is the activin receptor-like kinase-1 (ALK-1) gene located on chromosome 12q13. ALK-1 is an endothelial cell type I rec
Novel frameshift mutations in the RP2 ge
β
Dawn L. Thiselton; Ilaria Zito; Catherine Plant; Marcelle Jay; Shirley V. Hodgso
π
Article
π
2000
π
John Wiley and Sons
π
English
β 18 KB
π 1 views
Two intronic mutations in the adrenoleuk
β
Stephan Kemp; Marjolijn J. L. Ligtenberg; BjΓΆrn M. van Geel; Peter G. Barth; Cla
π
Article
π
1995
π
John Wiley and Sons
π
English
β 168 KB
Novel missense mutations in the FOXC2 ge
β
M.A.M. van Steensel; R.J. Damstra; M. Heitink; R.S. Bladergroen; J. Veraart; Pet
π
Article
π
2009
π
John Wiley and Sons
π
English
β 174 KB
Novel frameshift mutation in exon 4 of C
β
T. Ivaschenko; M. Bakay; V. Baranov
π
Article
π
1995
π
John Wiley and Sons
π
English
β 156 KB
π 1 views
## Communicated by Michel Coossens Cystic fibrosis (CF) is a common recessive lethal genetic disorder caused by various mutations in the