A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.

We have determined the mutation in a patient with acute intermittent porphyria. The mRNA coding for porphobilinogen deaminase was reverse transcribed then the cDNA was enzymatically amplified in vitro. Upon sequencing of a polymerase chain reaction product of abnormal size we found that this fragmen...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Grandchamp, B, Picat, C, de Rooij, F, Beaumont, C, Wilson, P, Deybach, J C, Nordmann, Y
Formato: Artigo
Idioma:Inglês
Publicado em: 1989
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC318356/
https://ncbi.nlm.nih.gov/pubmed/2789372
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados