A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation (2019)
- Authors:
- Autor USP: RODRIGUES, RODRIGO DO TOCANTINS CALADO DE SALOMA - FMRP
- Unidade: FMRP
- DOI: 10.1007/s00439-019-02076-8
- Subjects: HEMATOLOGIA; TELÔMERO; FENÓTIPOS; GENÉTICA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Heidelberg
- Date published: 2019
- Source:
- Título: Human Genetics
- ISSN: 0340-6717
- Volume/Número/Paginação/Ano: v. 138, n. 11-12, p. 1323-1330, 2019
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: green
-
ABNT
GUTIERREZ-RODRIGUES, Fernanda et al. A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation. Human Genetics, v. 138, n. 11-12, p. 1323-1330, 2019Tradução . . Disponível em: https://doi.org/10.1007/s00439-019-02076-8. Acesso em: 27 dez. 2025. -
APA
Gutierrez-Rodrigues, F., Masri, N., Chouery, E., Diamond, C., Jalkh, N., Vicente, A., et al. (2019). A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation. Human Genetics, 138( 11-12), 1323-1330. doi:10.1007/s00439-019-02076-8 -
NLM
Gutierrez-Rodrigues F, Masri N, Chouery E, Diamond C, Jalkh N, Vicente A, Kajigaya S, Abillama F, Bejjani N, Serhal W, Calado RT, Young NS, Farhat H, Coussa ML. A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation [Internet]. Human Genetics. 2019 ; 138( 11-12): 1323-1330.[citado 2025 dez. 27 ] Available from: https://doi.org/10.1007/s00439-019-02076-8 -
Vancouver
Gutierrez-Rodrigues F, Masri N, Chouery E, Diamond C, Jalkh N, Vicente A, Kajigaya S, Abillama F, Bejjani N, Serhal W, Calado RT, Young NS, Farhat H, Coussa ML. A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation [Internet]. Human Genetics. 2019 ; 138( 11-12): 1323-1330.[citado 2025 dez. 27 ] Available from: https://doi.org/10.1007/s00439-019-02076-8 - Targeting complement to treat paroxysmal nocturnal hemoglobinuria (PNH)
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Informações sobre o DOI: 10.1007/s00439-019-02076-8 (Fonte: oaDOI API)
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