Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

Mutation Screening of theHGDGene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence

(2014) Srinivasan Sakthivel et al.   ANNALS OF HUMAN GENETICS

First Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria

(2014) Mohammad Zouheir Habbal et al.   PLoS One

mCSM: predicting the effects of mutations in proteins using graph-based signatures

(2013) Douglas E. V. Pires et al.   BIOINFORMATICS

First report of HGD mutations in a Chinese with alkaptonuria

(2013) Yong-jia Yang et al.   GENE

A quantitative assessment of alkaptonuria

(2011) Trevor F. Cox et al.   JOURNAL OF INHERITED METABOLIC DISEASE

An update on molecular genetics of Alkaptonuria (AKU)

(2011) Andrea Zatkova   JOURNAL OF INHERITED METABOLIC DISEASE

Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria

(2011) Mohammed Al-sbou   RHEUMATOLOGY INTERNATIONAL

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Nine cases of Alkaptonuria in one family in southern Jordan

(2010) Mohammed Al-sbou et al.   RHEUMATOLOGY INTERNATIONAL

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria

(2009) Thierry Vilboux et al.   HUMAN MUTATION

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH