Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements

被引：11

作者：

Girardet, A. ^{[1
]}

Guittard, C. ^{[1
]}

Altieri, J-P ^{[1
]}

Templin, C. ^{[1
]}

Stremler, N. ^{[1
]}

Beroud, C. ^{[1
]}

des Georges, M. ^{[1
]}

Claustres, M. ^{[1
]}

机构：

[1] Mol Genet Lab, F-34095 Montpellier 5, France

来源：

CLINICAL GENETICS | 2007年 / 72卷 / 04期

关键词：

D O I：

10.1111/j.1399-0004.2007.00850.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：374 / 377

页数：4

共 9 条

[1] UMD (Universal Mutation Database):: 2005 update [J].

Béroud, C ;

Hamroun, D ;

Collod-Béroud, G ;

Boileau, C ;

Soussi, T ;

Claustres, M .

HUMAN MUTATION, 2005, 26 (03) :184-191

[2]

Chevalier-Porst F, 2005, Hum Mutat, V25, P504, DOI 10.1002/humu.9335

[3]

Claustres M, 2000, HUM MUTAT, V16, P143, DOI 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO

[4]

2-J

[5]

des Georges Marie, 2004, J Cyst Fibros, V3, P265, DOI 10.1016/j.jcf.2004.04.008

[6] A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia:: Implications for population screening [J].

Faa, Valeria ;

Bettoli, Pietro Pellegrini ;

Demurtas, Maria ;

Zanda, Maurizio ;

Ferri, Vincenzina ;

Cao, Antonio ;

Rosatelli, Maria Cristina .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2006, 8 (04) :499-503

[7] Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene [J].

Koh, Won-Jung ;

Ki, Chang-Seok ;

Kim, Jong-Won ;

Kim, Jeong-Ho ;

Lim, Seong Yong .

JOURNAL OF KOREAN MEDICAL SCIENCE, 2006, 21 (03) :563-566

[8] Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis -: art. no. e118 [J].

Niel, F ;

Martin, J ;

Dastot-Le Moal, F ;

Costes, B ;

Boissier, B ;

Delattre, V ;

Goossens, M ;

Girodon, E .

JOURNAL OF MEDICAL GENETICS, 2004, 41 (11) :e118

[9] Large genomic rearrangements in the CFTR gene contribute to CBAVD [J].

Taulan, Magali ;

Girardet, Anne ;

Guittard, Caroline ;

Altieri, Jean-Pierre ;

Templin, Carine ;

Beroud, Christophe ;

des Georges, Marie ;

Claustres, Mireille .

BMC MEDICAL GENETICS, 2007, 8

← 1 →