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A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.
Hum Mutat. 2001 Mar; 17(3):239.HM

Authors+Show Affiliations

IRCCS Eugenio Medea, Bosisio Parini, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11241855

Citation

Sironi, M, et al. "A Novel Splice Site Mutation (3157+1G>T) in the Dystrophin Gene Causing Total Exon Skipping and DMD Phenotype." Human Mutation, vol. 17, no. 3, 2001, p. 239.
Sironi M, Corti S, Locatelli F, et al. A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype. Hum Mutat. 2001;17(3):239.
Sironi, M., Corti, S., Locatelli, F., Cagliani, R., & Comi, G. P. (2001). A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype. Human Mutation, 17(3), 239.
Sironi M, et al. A Novel Splice Site Mutation (3157+1G>T) in the Dystrophin Gene Causing Total Exon Skipping and DMD Phenotype. Hum Mutat. 2001;17(3):239. PubMed PMID: 11241855.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype. AU - Sironi,M, AU - Corti,S, AU - Locatelli,F, AU - Cagliani,R, AU - Comi,G P, PY - 2001/3/10/pubmed PY - 2001/8/3/medline PY - 2001/3/10/entrez SP - 239 EP - 239 JF - Human mutation JO - Hum Mutat VL - 17 IS - 3 SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/11241855/A_novel_splice_site_mutation__3157+1G>T__in_the_dystrophin_gene_causing_total_exon_skipping_and_DMD_phenotype_ L2 - https://doi.org/10.1002/humu.18 DB - PRIME DP - Unbound Medicine ER -