Simultaneous molecular haplotyping of both IVS8 (TG)m and (T)n tracts in the CFTR gene:: Still a challenge

被引：4

作者：

Costa, Catherine ^{[1
]}

Goossens, Michel ^{[1
]}

Girodon, Emmanuelle ^{[1
]}

机构：

[1] CHU Henri Mondor, Genet Mol Lab, INSERM, Unite U654,APHP, F-94010 Creteil, France

来源：

CLINICAL CHEMISTRY | 2006年 / 52卷 / 08期

关键词：

D O I：

10.1373/clinchem.2005.065383

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

引用

页码：1621 / 1622

页数：2

共 4 条

[1]

Costa Catherine, 2003, Mol Diagn, V7, P45

[2] Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign [J].

Groman, JD ;

Hefferon, TW ;

Casals, T ;

Bassas, LS ;

Estivill, X ;

Des Georges, M ;

Guittard, C ;

Koudova, M ;

Fallin, MD ;

Nemeth, K ;

Fekete, G ;

Kadasi, L ;

Friedman, K ;

Schwarz, M ;

Bombieri, C ;

Pignatti, PF ;

Kanavakis, E ;

Tzetis, M ;

Schwartz, M ;

Novelli, G ;

D'Apice, MR ;

Sobczynska-Tomaszewska, A ;

Bal, J ;

Stuhrmann, M ;

Macek, M ;

Claustres, M ;

Cutting, GR .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (01) :176-179

[3] Discovering rare variants by use of melting temperature shifts seen in melting curve analysis [J].

Lyon, E .

CLINICAL CHEMISTRY, 2005, 51 (08) :1331-1332

[4] Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes [J].

Millson, A ;

Pont-Kingdon, G ;

Page, S ;

Lyon, E .

CLINICAL CHEMISTRY, 2005, 51 (09) :1619-1623

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