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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.
Maydan, G; Andresen, B S; Madsen, P P; Zeigler, M; Raas-Rothschild, A; Zlotogorski, A; Gutman, A; Korman, S H.
Affiliation
  • Maydan G; Department of Clinical Biochemistry, Hadassah--Hebrew University Medical Center, Jerusalem, Israel.
J Inherit Metab Dis ; 29(5): 620-6, 2006 Oct.
Article in En | MEDLINE | ID: mdl-16917729
Subject(s)
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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 Affiliation country: Israel Country of publication: United States
Search on Google
Add to My VHL
Print
XML
PubMed Links

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 Affiliation country: Israel Country of publication: United States