| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele
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| Autores: |
Polizzi,Angela
Tesse,Riccardina
Santostasi,Teresa
Diana,Anna
Manca,Antonio
Logrillo,Vito Paolo
Cazzato,Maria Domenica
Pantaleo,Maria Giuseppa
Armenio,Lucio
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| Data: |
2011-01-01
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| Ano: |
2011
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| Palavras-chave: |
CFTR
Complex allele
Cystic fibrosis
Phenotype
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| Resumo: |
Cystic fibrosis (CF) is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR gene, and one different mutation per patient inherited in trans in a wide population of 289 Caucasian CF subjects from South Italy. The genotype-phenotype relationship in patients bearing this complex allele was investigated. The two associated mutations were related to classical severe CF phenotypes.
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| Tipo: |
Info:eu-repo/semantics/other
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300008
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572011000300008
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.34 n.3 2011
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| Direitos: |
info:eu-repo/semantics/openAccess
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