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Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene

Document Type

Article

Author

Backers, L.; Parton, B.; De Bruyne, M.; Claes, K.B.M.; Tavernier, S.J.; Van Den Bogaert, K.; Lambrecht, B.N.; Haerynck, F.

Source

In: Clinical Genetics. (Clinical Genetics, February 2021, 99(2):292-297)

Subject

Language

English

ISSN

13990004
00099163

Online Access

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

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