The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry (2022)
- Authors:
- Autor USP: KIM, CHONG AE - FM
- Unidade: FM
- DOI: 10.1002/ajmg.a.62651
- Subjects: FRATURAS; ANCESTRAIS; PREVALÊNCIA; FENÓTIPOS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: American journal of medical genetics part a
- ISSN: 1552-4825
- Volume/Número/Paginação/Ano: v. 188, n. 5, p. 1545-1549, 2022
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
ALI, Taccyanna M. et al. The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry. American journal of medical genetics part a, v. 188, n. 5, p. 1545-1549, 2022Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.62651. Acesso em: 19 fev. 2026. -
APA
Ali, T. M., Linnenkamp, B. D. W., Yamamoto, G. L., Honjo, R. S., Menezes Filho, H. C. de, Kim, C. A., & Bertola, D. R. (2022). The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry. American journal of medical genetics part a, 188( 5), 1545-1549. doi:10.1002/ajmg.a.62651 -
NLM
Ali TM, Linnenkamp BDW, Yamamoto GL, Honjo RS, Menezes Filho HC de, Kim CA, Bertola DR. The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry [Internet]. American journal of medical genetics part a. 2022 ; 188( 5): 1545-1549.[citado 2026 fev. 19 ] Available from: https://doi.org/10.1002/ajmg.a.62651 -
Vancouver
Ali TM, Linnenkamp BDW, Yamamoto GL, Honjo RS, Menezes Filho HC de, Kim CA, Bertola DR. The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry [Internet]. American journal of medical genetics part a. 2022 ; 188( 5): 1545-1549.[citado 2026 fev. 19 ] Available from: https://doi.org/10.1002/ajmg.a.62651 - NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene
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Informações sobre o DOI: 10.1002/ajmg.a.62651 (Fonte: oaDOI API)
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