Chapter title |
Molecular Aspects of the FAH Mutations Involved in HT1 Disease
|
---|---|
Chapter number | 3 |
Book title |
Hereditary Tyrosinemia
|
Published in |
Advances in experimental medicine and biology, January 2017
|
DOI | 10.1007/978-3-319-55780-9_3 |
Pubmed ID | |
Book ISBNs |
978-3-31-955779-3, 978-3-31-955780-9
|
Authors |
Geneviève Morrow, Francesca Angileri, Robert M. Tanguay |
Abstract |
Hereditary tyrosinemia type 1 (HT1) is caused by the lack of fumarylacetoacetate hydrolase (FAH), the last enzyme of the tyrosine catabolic pathway. Up to now, around 100 mutations in the FAH gene have been associated with HT1, and despite many efforts, no clear correlation between genotype and clinical phenotype has been reported. At first, it seems that any mutation in the gene results in HT1. However, placing these mutations in their molecular context allows a better understanding of their possible effects. This chapter presents a closer look at the FAH gene and its corresponding protein in addition to provide a complete record of all the reported mutations causing HT1. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 16 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Lecturer | 2 | 13% |
Student > Master | 2 | 13% |
Researcher | 2 | 13% |
Student > Ph. D. Student | 2 | 13% |
Lecturer > Senior Lecturer | 1 | 6% |
Other | 2 | 13% |
Unknown | 5 | 31% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 5 | 31% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 13% |
Agricultural and Biological Sciences | 2 | 13% |
Computer Science | 1 | 6% |
Medicine and Dentistry | 1 | 6% |
Other | 0 | 0% |
Unknown | 5 | 31% |