๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

De-novo mutation and sporadic presentation of acute intermittent porphyria

โœ Scribed by S.D. Whatley; A.G. Roberts; G.H. Elder

Book ID
118558718
Publisher
The Lancet
Year
1995
Tongue
English
Weight
303 KB
Volume
346
Category
Article
ISSN
0140-6736

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Molecular basis of acute intermittent po
Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene
โœ Kenneth H. Astrin; Robert J. Desnick ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 900 KB

Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase). AIP is an ecogenetic condition, with 1ife.threatening acute attacks pre

De novo truncating FUS gene mutation as
De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis
โœ Mariely DeJesus-Hernandez; Jannet Kocerha; NiCole Finch; Richard Crook; Matt Bak ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 441 KB ๐Ÿ‘ 1 views

Mutations in the gene encoding fused in sarcoma (FUS) were recently identified as a novel cause of amyotrophic lateral sclerosis (ALS), emphasizing the genetic heterogeneity of ALS. We sequenced the genes encoding superoxide dismutase (SOD1), TAR DNA-binding protein 43 (TARDBP) and FUS in 99 sporadi