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Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.

The features of a child with Ehlers-Danlos syndrome type IV (EDS IV) resulting from a mutation in one COL3A1 allele were studied. The child was heterozygous for a G- to A-transition at the splice donor site of intron 41. It resulted in the splicing out of the exon 41 encoded sequence from alpha 1(II...

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Bibliografiske detaljer
Main Authors: Sillence, D O, Chiodo, A A, Campbell, P E, Cole, W G
Format: Artigo
Sprog:Inglês
Udgivet: 1991
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017161/
https://ncbi.nlm.nih.gov/pubmed/1757960
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