An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease - Concepedia

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An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease

DOI Full Paper Access

21

Citations

21

References

2008

Year

Dongchuan Guo, Prateek Gupta, Van Tran‐Fadulu, Tera V. Guidry, Magalie S. Leduc, Frederick V. Schaefer, Dianna M. Milewicz

Journal of Human Genetics

Marfan SyndromeMendelian DisorderDisease MechanismGenetic DisorderMedicineGeneticsPathologyCryptic MutationsFbn1 Pseudoexon MutationMolecular GeneticsDisease Gene IdentificationMonogenic DisordersClinical Genetics

References

	Year	Citations

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