Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.P274L
Back to variants list

HGD

NM_000187.4:p.P274L

Associated Papers

Presentation of 14 alkaptonuria patients from Turkey.

Akbaba AI et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

Single Amino Acid Substitution in Homogentisate Dioxygenase Affects Melanin Production in Bacillus thuringiensis.

Yang W et al.

Frontiers in Microbiology, 2018

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

Zatkova A et al.

Jimd Reports, 2012

An update on molecular genetics of Alkaptonuria (AKU).

Zatkova A

Journal of Inherited Metabolic Disease, 2011

Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD).

Gucev ZS et al.

Prilozi, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."