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Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

Document Type

Article

Author

Ruhno, C.; McGovern, V.L.; Burghes, A.H.M.; Avenarius, M.R.; Snyder, P.J.; Prior, T.W.; Nery, F.C.; Muhtaseb, A.; Siranosian, J.J.; Johnstone, A.J.; Nwe, P.H.; Zhang, R.Z.; Swoboda, K.J.; Roggenbuck, J.S.; Kissel, J.T.; Sansone, V.A.

Source

In: Human Genetics. (Human Genetics, 2019)

Subject

Language

English

ISSN

14321203
03406717

Online Access

Full Text (Gale Academic Onefile) Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

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