You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output.
Click here to find out more.
Mendeley readers
Chapter title |
Laboratory Diagnosis by Genotyping
|
---|---|
Chapter number | 5 |
Book title |
Alpha-1 Antitrypsin Deficiency
|
Published in |
Methods in molecular biology, July 2017
|
DOI | 10.1007/978-1-4939-7163-3_5 |
Pubmed ID | |
Book ISBNs |
978-1-4939-7161-9, 978-1-4939-7163-3
|
Authors |
Belmonte, Irene, Montoto, Luciana, Rodríguez-Frías, Francisco, Irene Belmonte, Luciana Montoto, Francisco Rodríguez-Frías |
Abstract |
Alpha-1 antitrypsin (AAT) genotyping is useful to confirm the clinical diagnosis of AAT deficiency and determine the specific allelic variant. Genotyping is the reference standard procedure for identifying rare allelic variants and characterizing new variants. It is also useful when there is a discrepancy between the patients' AAT levels and their phenotypes. AAT genotype is determined by an allele-specific genotyping assay for the S, Z, and Mmalton variants and by exome sequencing. |
Mendeley readers
The data shown below were compiled from readership statistics for 6 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 6 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Doctoral Student | 2 | 33% |
Other | 1 | 17% |
Student > Ph. D. Student | 1 | 17% |
Student > Master | 1 | 17% |
Student > Postgraduate | 1 | 17% |
Other | 0 | 0% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 3 | 50% |
Agricultural and Biological Sciences | 1 | 17% |
Biochemistry, Genetics and Molecular Biology | 1 | 17% |
Unknown | 1 | 17% |