A Point Mutation in an Intronic Branch Site Results in Aberrant Splicing of COL5A1 and in Ehlers-Danlos Syndrome Type II in Two British Families - Concepedia

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A Point Mutation in an Intronic Branch Site Results in Aberrant Splicing of COL5A1 and in Ehlers-Danlos Syndrome Type II in Two British Families

DOI Full Paper Access

77

Citations

25

References

1998

Year

Nigel Burrows, A C Nicholls, Allan J. Richards, Craig Luccarini, J. B. Harrison, John R.W. Yates, F M Pope

The American Journal of Human Genetics

Aberrant SplicingGenetic DisorderGeneticsPathologyPoint MutationMolecular GeneticsDisease Gene IdentificationGenomicsMedicineBritish FamiliesVariant InterpretationClinical Genetics

References

	Year	Citations

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