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Novel biallelic splice-site BBS1 variants in Bardet–Biedle syndrome: a case report of the first Japanese patient |
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Titel: |
Novel biallelic splice-site BBS1 variants in Bardet–Biedle syndrome: a case report of the first Japanese patient |
Auteur: |
Katagiri, Satoshi Hosono, Katsuhiro Hayashi, Takaaki Murai, Noriyuki Wake, Eiichi Miyata, Ichiro Mizobuchi, Kei Kurata, Kentaro Matsuura, Tomokazu Nakano, Tadashi Hotta, Yoshihiro |
Verschenen in: |
Documenta ophthalmologica |
Paginering: |
Jaargang 141 () nr. 1 pagina's 77-88 |
Jaar: |
2020-01-29 |
Inhoud: |
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Uitgever: |
Springer Berlin Heidelberg, Berlin/Heidelberg |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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