Llwytho...

Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.

Adenosine deaminase (ADA) deficiency usually causes severe combined immune deficiency in infancy. Milder phenotypes, with delayed or late onset and gradual decline in immune function, also occur and are associated with less severely impaired deoxyadenosine (dAdo) catabolism. We have characterized th...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Arredondo-Vega, F. X., Santisteban, I., Kelly, S., Schlossman, C. M., Umetsu, D. T., Hershfield, M. S.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1994
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918276/
https://ncbi.nlm.nih.gov/pubmed/8178821
Tagiau: Ychwanegu Tag
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