Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes:: a large European study

被引：26

作者：

Amaral, MD

Pacheco, P

Beck, S

Farinha, CM

Penque, D

Nogueira, P

Barreto, C

Lopes, B

Casals, T

Dapena, J

Gartner, S

Vásquez, C

Pérez-Frías, J

Olveira, C

Cabanas, R

Estivill, X

Tzetis, M

Kanavakis, E

Doudounakis, S

Dörk, T

Tümmler, B

Girodon-Boulandet, E

Cazeneuve, C

Goossens, M

Blayau, M

Verlingue, C

Vieira, I

Féréc, C

Claustres, M

des Georges, M

Clavel, C

Birembaut, P

Hubert, D

Bienvenu, T

Adoun, M

Chomel, JC

De Boeck, K

Cuppens, H

Lavinha, J

机构：

[1] Inst Nacl Saude Dr Ricardo Jorge, Ctr Human Genet, P-1649016 Lisbon, Portugal

[2] Univ Lisbon, Fac Ciencias, Dept Quim & Bioquim, P-1699 Lisbon, Portugal

[3] Inst Nacl Saude Dr Ricardo Jorge, Observ Nacl Saude, P-1649016 Lisbon, Portugal

[4] Hosp Santa Maria, Serv Pediat, Unidade Fibrose Quist, Lisbon, Portugal

[5] Hosp D Estefania, Lisbon, Portugal

[6] Hosp Duran I Reynals, IRO, Dept Mol Genet, Barcelona, Spain

[7] Hosp Univ Virgen Roccio, Cyst Fibrosis Unit, Seville, Spain

[8] Hosp Univ Materno Infantil Vall Hebron, Cyst Fibrosis Unit, Barcelona, Spain

[9] Hosp Infantil Cruces, Cyst Fibrosis Unit, Pais Vasco, Spain

[10] Hosp Carlos Haya, Cyst Fibrosis Unit, Malaga, Spain

[11] Hosp Xeral Vigo, Paediat Serv, Galicia, Spain

[12] St Sophia Childrens Hosp, Dept Paediat 1, Athens, Greece

[13] St Sophia Childrens Hosp, Choremio Res Lab, Mol Med Unit, Athens, Greece

[14] Hannover Med Sch, Klin Forsch Grp, Hannover, Germany

[15] Hop Henri Mondor, Serv Biochim & genet, F-94010 Creteil, France

[16] CHRU Rennes Pontchaillou, Serv Genet Mol & Hormonol, Rennes, France

[17] CHU Brest, Lab Genet Mol & Histocompatibil, F-29285 Brest, France

[18] Inst Biol, Lab Genet Mol & Chromosom, Montpellier, France

[19] CHU Reims, Lab Pol Bouin, Reims, France

[20] CHU Reims, Hop Maison Blanche, INSERM, Unite U514, Reims, France

[21] Grp Hosp Cochin, Lab Biochim & Biol Mol, Paris, France

[22] Grp Hosp Cochin, Serv Pneumol, Paris, France

[23] CHU Poitiers, Lab Genet Cellulaire & Mol, Poitiers, France

[24] UZ Gasthuisberg, Dept Paediat, Louvain, Belgium

[25] Katholieke Univ Leuven, Ctr Human Genet, B-3001 Louvain, Belgium

来源：

JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 11期

关键词：

D O I：

10.1136/jmg.38.11.777

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：777 / 782

页数：6

共 39 条

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[2] 2-T
[3] SEVERE CYSTIC-FIBROSIS PHENOTYPE IN A DELTA-F508 3272-26A-]G COMPOUND HETEROZYGOTE
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BELDJORD, C
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HUBERT, D
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[J]. JOURNAL OF MEDICAL GENETICS, 1995, 32 (11) : 919 - 919
[4] Casals T, 1997, HUM MUTAT, V10, P387, DOI 10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.3.CO
[5] 2-V
[6] MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS
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[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1995, 332 (22) : 1475 - 1480
[7] CYSTIC-FIBROSIS - MOLECULAR-BIOLOGY AND THERAPEUTIC IMPLICATIONS
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[J]. SCIENCE, 1992, 256 (5058) : 774 - 779
[8] CONWAY SP, 1996, CYSTIC FIBROSIS CURR, P339
[9] Coste A., 1995, Rhinology (Utrecht), V33, P152
[10] COSTES B, 1995, EUR J HUM GENET, V3, P285

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Cystic fibrosis patients with the 3272-26A&gt;G splicing mutation have milder disease than F508del homozygotes:: a large European study

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes:: a large European study