Cystic fibrosis patients with the 3272-26A -> G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane

S Beck; D Penque; Susana Garcia; A Gomes; C Farinha; L Mata; S Gulbenkian; K Gil-Ferreira; A Duarte; P Pacheco; C Barreto; B Lopes; J Cavaco; J Lavinha; MD Amaral

Cystic fibrosis patients with the 3272-26A -> G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane

S Beck, D Penque, Susana Garcia, A Gomes, C Farinha, L Mata, S Gulbenkian, K Gil-Ferreira, A Duarte, P Pacheco, C Barreto, B Lopes, J Cavaco, J Lavinha, MD Amaral

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	Human Mutation
Vuosikerta	14
Numero	2
Sivut	133-144
Sivumäärä	12
ISSN	1059-7794
Tila	Julkaistu - 1999
Julkaistu ulkoisesti	Kyllä
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Siteeraa tätä

Beck, S., Penque, D., Garcia, S., Gomes, A., Farinha, C., Mata, L., Gulbenkian, S., Gil-Ferreira, K., Duarte, A., Pacheco, P., Barreto, C., Lopes, B., Cavaco, J., Lavinha, J., & Amaral, MD. (1999). Cystic fibrosis patients with the 3272-26A -> G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane. Human Mutation, 14(2), 133-144.

@article{92f1ae6ba32546dc832c1fdc05dbfa47,

title = "Cystic fibrosis patients with the 3272-26A -> G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane",

keywords = "cystic fibrosis, CFTR, splicing mutation, nasal epithelium, TRANSMEMBRANE CONDUCTANCE REGULATOR, MESSENGER-RNA, EPITHELIAL-CELLS, NONSENSE MUTATIONS, GENE, IDENTIFICATION, PHENOTYPE, SEQUENCE, DNA, TRANSPORT",

author = "S Beck and D Penque and Susana Garcia and A Gomes and C Farinha and L Mata and S Gulbenkian and K Gil-Ferreira and A Duarte and P Pacheco and C Barreto and B Lopes and J Cavaco and J Lavinha and MD Amaral",

year = "1999",

language = "English",

volume = "14",

pages = "133--144",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley & Sons, Ltd",

number = "2",

}

Beck, S, Penque, D, Garcia, S, Gomes, A, Farinha, C, Mata, L, Gulbenkian, S, Gil-Ferreira, K, Duarte, A, Pacheco, P, Barreto, C, Lopes, B, Cavaco, J, Lavinha, J & Amaral, MD 1999, 'Cystic fibrosis patients with the 3272-26A -> G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane', Human Mutation, Vuosikerta 14, Nro 2, Sivut 133-144.

TY - JOUR

T1 - Cystic fibrosis patients with the 3272-26A -> G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane

AU - Beck, S

AU - Penque, D

AU - Garcia, Susana

AU - Gomes, A

AU - Farinha, C

AU - Mata, L

AU - Gulbenkian, S

AU - Gil-Ferreira, K

AU - Duarte, A

AU - Pacheco, P

AU - Barreto, C

AU - Lopes, B

AU - Cavaco, J

AU - Lavinha, J

AU - Amaral, MD

PY - 1999

Y1 - 1999

KW - cystic fibrosis

KW - CFTR

KW - splicing mutation

KW - nasal epithelium

KW - TRANSMEMBRANE CONDUCTANCE REGULATOR

KW - MESSENGER-RNA

KW - EPITHELIAL-CELLS

KW - NONSENSE MUTATIONS

KW - GENE

KW - IDENTIFICATION

KW - PHENOTYPE

KW - SEQUENCE

KW - DNA

KW - TRANSPORT

M3 - Article

VL - 14

SP - 133

EP - 144

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 2

ER -