Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report

Author:

da Silva Martins Raisa,Fonseca Ana Carolina Proença,Acosta Franklyn Enrique Samudio,Folescu Tania Wrobel,Higa Laurinda Yoko Shinzato,Sad Izabela Rocha,de Miranda Chaves Célia Regina Moutinho,Cabello Pedro Hernan,Cabello Giselda Maria Kalil

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Reference16 articles.

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2. Hamosh A, Corey M: Correlation between genotype and phenotype in patients with cystic fibrosis (Cystic Fibrosis Genotype-Phenotype Consortium). N Engl J Med. 1993, 329: 1308-1313.

3. Cutting GR: Cystic Fibrosis. Principles and Practice of Medical Genetics. Edited by: Rimon DL, Connor JM, Pyeritz RE, Korf BR. 2002, London: Harcourt publishers, 1561-1606. 4

4. Cystic fibrosis mutation database.http://www.genet.sickkids.on.ca/cftr/,

5. Bernardino ALF, Ferri A, Passos-Bueno MR, Kim CEA, Nakaie CMA, Gomes CE, Damaceno N, Zatz M: Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. Genet Test. 2000, 4 (1): 69-74. 10.1089/109065700316516.

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