TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.

doi:10.1007/s10545-006-0407-8

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.

Journal of inherited metabolic disease - 1 Oct 2006

Maydan G, Andresen B S, Madsen P P, Zeigler M, Raas-Rothschild A, Zlotogorski A, Gutman A, Korman S H

Abstract excerpt

Deficiency of the hepatic cytosolic enzyme tyrosine aminotransferase (TAT) causes marked hypertyrosinaemia leading to painful palmoplantar hyperkeratoses, pseudodendritic keratitis and variable mental retardation (oculocutaneous tyrosinaemia type II or Richner-Hanhart syndrome). Parents may therefore seek prenatal diagnosis, but this is not possible by biochemical assays as tyrosine does not accumulate in...

Topics

Adult
Alternative Splicing
Child
Child, Preschool
DNA Mutational Analysis
Exons
Eye Diseases
Female
Humans
Infant
Infant, Newborn
Israel
Male
Molecular Sequence Data

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Skin Diseases

Tyrosine Transaminase

Source

Open in PubMed

Identifiers

PMID: 16917729
DOI: 10.1007/s10545-006-0407-8

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.