Literature summary for 1.13.11.5 extracted from

Toth, K.; Kiss-Laaszlo, Z.; Lenart, E.; Juhasz, K.; Takacs, K.; Bender, T.; Szabo, J.
Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years (2010), Joint Bone Spine, 77, 355-357.

Search for more literature for 1.13.11.5

Cloned(Commentary)

Cloned (Comment)	Organism
genotyping	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G161R	naturally occuring mutation in the HGD gene, resulting in a specific genotype appearing in a Hungarian population, originating from Slovakia, with alkaptonuria, phenotype overview	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
bone	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
HgD	-	Homo sapiens
homogentisic acid 1,2-dioxygenase	-	Homo sapiens

General Information

General Information	Comment	Organism
evolution	the G161R natural mutation in the HGD gene occurs in a Hungarian population, originating from Slovakia, resists over 300 years, alkaptonuria phenotype overview	Homo sapiens

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Release 2023.1 (January 2023)