KEGG VARIANT: 6898v1

VARIANT: 6898v1

Entry

6898v1                      Variant

Name

TAT deficiency

Gene

TAT tyrosine aminotransferase [KO:K00815]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 613018

Network

nt06016 Phenylalanine and tyrosine metabolism

Disease

Tyrosinemia

Reference

Authors

Natt E, Kida K, Odievre M, Di Rocco M, Scherer G

Title

Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.

Journal

Proc Natl Acad Sci U S A 89:9297-301 (1992)
DOI:10.1073/pnas.89.19.9297

LinkDB

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