Zobrazeno 1 - 10
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pro vyhledávání: '"gene CFTR"'
Akademický článek
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Publikováno v:
Pediatrics and Neonatology, Vol 49, Iss 6, Pp 240-244 (2008)
Cystic fibrosis (CF) is considered to be a rare disease in Asians. We report two cases of CF in a 5-year-old girl and her newborn brother. They are of mixed parentage: a Taiwanese mother and an Australian father. Methods: A comprehensive mutational a
Externí odkaz:
https://doaj.org/article/79dd66ea83ed48eb93454f565e6bcedb
Publikováno v:
Clinical and Biomedical Research, Vol 31, Iss 2 (2011)
A fibrose cística (FC) é a doença autossômica recessiva mais comum em euro-descendentes, com uma incidência estimada de 1 caso a cada 2.500 nascimentos. A FC é uma doença multissistêmica, caracterizada principalmente por doença pulmonar prog
Externí odkaz:
https://doaj.org/article/c30d8c4bcb374515a9de6797b7a3acf8
Akademický článek
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The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia
Publikováno v:
International Journal of Pediatrics and Adolescent Medicine, Vol 4, Iss 1, Pp 41-46 (2017)
International Journal of Pediatrics & Adolescent Medicine
International Journal of Pediatrics & Adolescent Medicine
The first cases of a rare double homozygosity of two different mutations in the cystic fibrosis trans-regulator gene (CFTR) of a cystic fibrosis patient in Saudi Arabia. Details of the family screening and a review of the literature on similar cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::866c1c48d96a9f204fca365f50726a84
https://doi.org/10.1016/j.ijpam.2016.09.001
https://doi.org/10.1016/j.ijpam.2016.09.001
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Dissertação para obtenção do grau de Mestre no Instituto Universitário Egas Moniz A FC é uma doença genética, autossómica recessiva, que resulta de uma mutação no gene CFTR. As alterações que ocorrem na proteína CFTR, resultantes desta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a793efbcae420d77e2eef95512ddc71d
https://hdl.handle.net/10400.26/25601
https://hdl.handle.net/10400.26/25601
Autor:
Cardoso, Maria Beatriz Reis
Relatório de Estágio do Mestrado Integrado em Ciências Farmacêuticas apresentado à Faculdade de Farmácia A Fibrose Quística (FQ) é uma doença genética hereditária, autossómica recessiva, que impõe limite à vida. A mutação no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1271::0eeb7ab001faa6d2f4c31379a387eab6
https://hdl.handle.net/10316/83781
https://hdl.handle.net/10316/83781
Autor:
Szu-Hung Chu, Chieh-Han Cheng, Chia-Yi Lo, Ling-Chun Liu, Wei Te Lei, Shyh-Dar Shyur, Li-Ching Fang, Li-Hsin Huang, Chen-Kuan Chen, Yu-Hsuan Kao
Publikováno v:
Journal of Microbiology, Immunology and Infection. 47(4):358-361
Cystic fibrosis (CF) is one of the most common autosomal recessive inherited disorders among Caucasians. Comparatively, it is considered to be a rare disease among Asians. To date, only a few cases of Taiwanese CF have been published. We report four
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bf0cae57009eb49785237180c816211
Publikováno v:
Repositório Institucional do UniCEUB
Centro de Ensino de Brasília (UNICEUB)
instacron:UNICEUB
Centro de Ensino de Brasília (UNICEUB)
instacron:UNICEUB
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Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::a4652608acdf345c868c9cb3e7437372
https://repositorio.uniceub.br/jspui/handle/235/6856
https://repositorio.uniceub.br/jspui/handle/235/6856
Autor:
Scorza, Manuela, ELCE, AUSILIA, Giordano, Sonia, AMATO, FELICE, Lo Sasso, Bruna, ZARRILLI, FEDERICA, TOMAIUOLO, ROSSELLA
Mutation epidemiology is crucial for cystic fibrosis (CF) diagnosis and counselling. ~6%-7% of alleles from CF patients do not bear mutations in the coding regions of the Cystic Fibrosis Transmembrane Regulator (CFTR) disease gene. In these patients,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::063e4090d1c4438fe4cfd9a30bb62e61
http://hdl.handle.net/11588/660478
http://hdl.handle.net/11588/660478