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Missense Mutation R1066C in the Second Transmembrane Domain of Cftr Causes a Severe Cystic Fibrosis Phenotype: Study of 19 Heterozygous and 2 Homozygous Patients

AuthID
P-001-CGB

Author(s)

Casals, T

Pacheco, P

Barreto, C

Gimenez, J

Ramos, MD

Pereira, S

Pinheiro, JA

Cobos, N

Curvelo, A

Vazquez, C

Rocha, H

Seculi, JL

Perez, E

Dapena, J

Carrilho, E

Duarte, A

Palacio, AM

Nunes, V

Lavinha, J

Estivill, X

Document Type

Article

Year published

1997

Published

in HUMAN MUTATION, ISSN: 1059-7794

Volume: 10, Issue: 5, Pages: 387-392 (6)

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Publication Identifiers

DOI: 10.1002/(sici)1098-1004(1997)10:5<387::aid-humu9>3.0.co;2-c

Pubmed: 9375855

Scopus: 2-s2.0-16944365624

Wos: WOS:A1997YC78600009

Source Identifiers

ISSN: 1059-7794

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Missense Mutation R1066C in the Second Transmembrane Domain of Cftr Causes a Severe Cystic Fibrosis Phenotype: Study of 19 Heterozygous and 2 Homozygous Patients

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Missense Mutation R1066C in the Second Transmembrane Domain of Cftr Causes a Severe Cystic Fibrosis Phenotype: Study of 19 Heterozygous and 2 Homozygous Patients

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