Llwytho...

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Grandchamp, B, Picat, C, de Rooij, F, Beaumont, C, Wilson, P, Deybach, J C, Nordmann, Y
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1989
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC318356/
https://ncbi.nlm.nih.gov/pubmed/2789372
Tagiau: Ychwanegu Tag
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