Nalaganje...

Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.

In six unrelated patients with hereditary tyrosinemia type 1 (HT1), three different disease-causing mutations were found by DNA sequencing. Two Pakistani patients, with acute and intermediate forms of HT1, were homozygous for a G192-->T mutation in the last nucleotide of exon 2. This caused aberr...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Rootwelt, H., Berger, R., Gray, G., Kelly, D. A., Coşkun, T., Kvittingen, E. A.
Format: Artigo
Jezik:Inglês
Izdano: 1994
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918286/
https://ncbi.nlm.nih.gov/pubmed/7942842
Oznake: Označite
Brez oznak, prvi označite!