RNA splicing meets genetic testing: Detection and interpretation of splicing defects in genetic diseases

Mario Tosi; Stefan Stamm; Diana Baralle

doi:10.1038/ejhg.2010.18

RNA splicing meets genetic testing: Detection and interpretation of splicing defects in genetic diseases

Mario Tosi, Stefan Stamm, Diana Baralle

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Original language	English
Pages (from-to)	737-738
Number of pages	2
Journal	European Journal of Human Genetics
Volume	18
Issue number	6
DOIs	https://doi.org/10.1038/ejhg.2010.18
State	Published - Jun 2010

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1038/ejhg.2010.18

Cite this

@article{54a2ef7d1b57479ea86893ddeb429b20,

title = "RNA splicing meets genetic testing: Detection and interpretation of splicing defects in genetic diseases",

author = "Mario Tosi and Stefan Stamm and Diana Baralle",

year = "2010",

month = jun,

doi = "10.1038/ejhg.2010.18",

language = "English",

volume = "18",

pages = "737--738",

number = "6",

}

TY - JOUR

T1 - RNA splicing meets genetic testing

T2 - Detection and interpretation of splicing defects in genetic diseases

AU - Tosi, Mario

AU - Stamm, Stefan

AU - Baralle, Diana

PY - 2010/6

Y1 - 2010/6

UR - http://www.scopus.com/inward/record.url?scp=77952668952&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77952668952&partnerID=8YFLogxK

U2 - 10.1038/ejhg.2010.18

DO - 10.1038/ejhg.2010.18

M3 - Article

C2 - 20179747

AN - SCOPUS:77952668952

SN - 1018-4813

VL - 18

SP - 737

EP - 738

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 6

ER -

RNA splicing meets genetic testing: Detection and interpretation of splicing defects in genetic diseases

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this