𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin

✍ Scribed by Faiqa Imtiaz; Mohamed S. Rashed; Bashayer Al-Mubarak; Rabab Allam; Hanaa El-Karaksy; Zuhair Al-Hassnan; Mohammed Al-Owain; Hamad Al-Zaidan; Zuhair Rahbeeni; Alya Qari; Brian F. Meyer; Moeen Al-Sayed

Book ID
116989380
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
143 KB
Volume
104
Category
Article
ISSN
1096-7192

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Mutations of the fumarylacetoacetate hyd
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I
✍ Markus Grompe; Muhsen Al-Dhalimy πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 777 KB

Tyrosinemia type I is an autosomal recessive inborn error of metabolism caused by deficiency of the enzyme fumaryl acetoacetate hydrolase (FAH, EC 3.7.1.2.). We have used reverse transcription and the polymerize chain reaction to amplify the peptide coding region of the FAH cDNA from four patients w

Mutation analysis of the FAH gene in Isr
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I
✍ Orly N. Elpeleg; Avraham Shaag; Elizabeth Holme; Ghaleb Zughayar; Suzi Ronen; Dr πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 61 KB πŸ‘ 1 views

Thirteen Israeli patients with type I tyrosinemia were studied. To the best of our knowledge, this group represents all of the patients that were diagnosed in Israel during the years 1987-1997. Their age of onset was variable but all the patients suffered from liver disease at presentation. Six died