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 do periódico: 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 assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
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: 05 jun. 2024. -
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 2024 jun. 05 ] 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 2024 jun. 05 ] Available from: https://doi.org/10.1002/ajmg.a.62651 - Caracterização clínico-laboratorial das Síndromes de Williams-Beuren e de Noonan
- Advantages of early replacement therapy for mucopolysaccharidosis type VI: Echocardiographic follow-up of siblings
- Mowat-Wilson syndrome: Neurological and molecular study in seven patients
- Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome
- Investigação da variação no número de cópias gênicas em crianças com defeito cardíaco conotruncal
- CD4+CD25highFoxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis
- Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures"
- Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
- Cri-du-Chat Syndrome: revealing a familial atypical seletion in 5p
- Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Informações sobre o DOI: 10.1002/ajmg.a.62651 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
