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.
J Inherit Metab Dis
; 29(5): 620-6, 2006 Oct.
Article
in En
| MEDLINE
| ID: mdl-16917729
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Skin Diseases
/
Tyrosine Transaminase
/
Tyrosinemias
/
Eye Diseases
/
Mutation
Type of study:
Etiology_studies
/
Prognostic_studies
Limits:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Country/Region as subject:
Asia
Language:
En
Journal:
J Inherit Metab Dis
Year:
2006
Document type:
Article