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Publications by P Narcisi
A T+6 to C+6 Mutation in the Donor Splice Site of COL3A1 IVS7 Causes Exon Skipping and Results in Ehlers-Danlos Syndrome Type IV.
Journal of Medical Genetics
Genetics
Related publications
Ehlers-Danlos Syndrome Type IV, Vascular Type, Which Demonstrated a Novel Point Mutation in the COL3A1 Gene
Internal Medicine
Internal Medicine
Medicine
Loss of Col3a1, the Gene for Ehlers-Danlos Syndrome Type IV, Results in Neocortical Dyslamination
PLoS ONE
Multidisciplinary
GT to AT Transition at a Splice Donor Site Causes Skipping of the Preceding Exon in Phenylketonuria
Nucleic Acids Research
Genetics
A Single Base Mutation in COL5A2 Causes Ehlers-Danlos Syndrome Type II.
Journal of Medical Genetics
Genetics
The Silent Mutation Nucleotide 744 G → A, Lys172Lys, in Exon 6 of BRCA2 Results in Exon Skipping
Breast Cancer Research and Treatment
Cancer Research
Oncology
Ehlers-Danlos Syndrome Type IV With Bilateral Pneumothorax
Internal Medicine
Internal Medicine
Medicine
COL5A1 Exon 14 Splice Acceptor Mutation Causes a Functional Null Allele, Haploinsufficiency of Α1(V) and Abnormal Heterotypic Interstitial Fibrils in Ehlers-Danlos Syndrome II
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Survival Is Affected by Mutation Type and Molecular Mechanism in Vascular Ehlers–Danlos Syndrome (EDS Type IV)
Genetics in Medicine
Medicine
Genetics
Hypermobile Ehlers-Danlos Syndrome (a.k.a. Ehlers-Danlos Syndrome Type III and Ehlers-Danlos Syndrome Hypermobility Type): Clinical Description and Natural History
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Genetics
