Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata-Reference-Cited by-同舟云学术

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata

Published:2022-01-09 Issue:5 Volume:67 Page:303-306
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Hiraide Takuya^ORCID,Masunaga Yohei,Honda Akira,Kato Fumiko,Fukuda Tokiko^ORCID,Fukami Maki^ORCID,Nakashima Mitsuko^ORCID,Saitsu Hirotomo^ORCID,Ogata Tsutomu^ORCID

Funder

Japan Agency for Medical Research and Development

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s10038-021-01000-1.pdf

Reference27 articles.

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2. Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, et al. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Nat Genet. 1999;22:291–4.

3. Batzer MA, Deininger PL. Alu repeats and human genomic diversity. Nat Rev Genet. 2002;3:370–9.

4. Hancks DC, Kazazian HH Jr. Roles for retrotransposon insertions in human disease. Mob DNA 2016;7:9.

5. Hohjoh H, Singer MF. Sequence-specific single-strand RNA binding protein encoded by the human LINE-1 retrotransposon. EMBO J. 1997;16:6034–43.

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