๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Tyrosinemia Type 11: A Challenge for Ophthalmologists and Dermatologists

โœ Scribed by Donata Benoldi; Jelka B. Orsoni; Fulvio Allegra

Book ID
109088615
Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
252 KB
Volume
14
Category
Article
ISSN
0736-8046

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Heterozygosity for an exon 12 splicing m
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1
โœ Si Houn Hahn; Donna Krasnewich; Mark Brantly; Eli Anne Kvittingen; William A. Ga ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 719 KB

Hereditary tyrosinemia type 1, an autosomal recessive disorder caused by deficiency of fumarylacetoacetate hydrolase (FAH), manifests in either an acute or a chronic form. We used reverse transcription and the polymerase chain reaction to amplify the FAH cDNA of a 12-year-old American boy with chron