Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism

Human Genetics ◽

10.1007/s004399900200 ◽

2000 ◽

Vol 106 (1) ◽

pp. 73-79 ◽

Author(s):

R.F. Schumacher ◽

P. Mella ◽

R. Badolato ◽

M. Fiorini ◽

G. Savoldi ◽

...

Keyword(s):

Mutation Analysis ◽

Genomic Organization ◽

Severe Combined Immunodeficiency ◽

Single Strand Conformation Polymorphism ◽

Single Strand ◽

Combined Immunodeficiency ◽

Conformation Polymorphism ◽

Complete Genomic

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Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism

Human Genetics ◽

10.1007/s004390051012 ◽

2000 ◽

Vol 106 (1) ◽

pp. 73-79 ◽

Author(s):

R.F. Schumacher ◽

P. Mella ◽

R. Badolato ◽

M. Fiorini ◽

G. Savoldi ◽

...

Keyword(s):

Mutation Analysis ◽

Genomic Organization ◽

Severe Combined Immunodeficiency ◽

Single Strand Conformation Polymorphism ◽

Single Strand ◽

Combined Immunodeficiency ◽

Conformation Polymorphism ◽

Complete Genomic

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Mutation analysis by a non‐radioactive single‐strand conformation polymorphism assay in nine families with X‐linked severe combined immunodeficiency (SCIDX1)

British Journal of Haematology ◽

10.1046/j.1365-2141.1998.00721.x ◽

1998 ◽

Vol 101 (3) ◽

pp. 582-587 ◽

Author(s):

Georg S. Wengler ◽

Silvia Giliani ◽

Maurilia Fiorini ◽

Patrizia Mella ◽

Elide Mantuano ◽

...

Keyword(s):

Mutation Analysis ◽

Severe Combined Immunodeficiency ◽

Single Strand Conformation Polymorphism ◽

Single Strand ◽

Combined Immunodeficiency ◽

Conformation Polymorphism

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Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R? chain gene by single-strand conformation polymorphism analysis

Human Genetics ◽

10.1007/bf00191801 ◽

1995 ◽

Vol 96 (4) ◽

Author(s):

PaulaA. Clark ◽

Tracy Lester ◽

Sally Genet ◽

AlisonM. Jones ◽

Rudi Hendriks ◽

...

Keyword(s):

Severe Combined Immunodeficiency ◽

Single Strand Conformation Polymorphism ◽

Single Strand ◽

Polymorphism Analysis ◽

Combined Immunodeficiency ◽

Conformation Polymorphism Analysis ◽

Conformation Polymorphism

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Single-Strand Conformation Polymorphism Mutation Analysis of the p53 Gene

Molecular Diagnosis of Cancer ◽

10.1385/0-89603-341-4:151 ◽

2003 ◽

pp. 151-160

Author(s):

Mark J. Booth

Keyword(s):

Mutation Analysis ◽

P53 Gene ◽

Single Strand Conformation Polymorphism ◽

Single Strand ◽

Conformation Polymorphism

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Fluorescent-based Single-strand Conformation Polymorphism/Heteroduplex Capillary Electrophoretic Mutation Analysis of the P53 Gene

Analytical Sciences ◽

10.2116/analsci.20.1001 ◽

2004 ◽

Vol 20 (7) ◽

pp. 1001-1005 ◽

Author(s):

Chunxia ZHAO ◽

Guowang XU ◽

Xianzhe SHI ◽

Jianmei MA ◽

Yan ZHANG ◽

...

Keyword(s):

Mutation Analysis ◽

P53 Gene ◽

Single Strand Conformation Polymorphism ◽

Single Strand ◽

Capillary Electrophoretic ◽

Conformation Polymorphism

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Automated DNA Mutation Analysis by Single-Strand Conformation Polymorphism Using Capillary Electrophoresis with Laser-Induced Fluorescence Detection

Molecular Biotechnology ◽

10.1385/mb:15:1:21 ◽

2000 ◽

Vol 15 (1) ◽

pp. 21-27 ◽

Author(s):

Ming-Sun Liu ◽

Sushma Rampal ◽

David Hsiang ◽

Fu-Tai A. Chen

Keyword(s):

Capillary Electrophoresis ◽

Mutation Analysis ◽

Fluorescence Detection ◽

Single Strand Conformation Polymorphism ◽

Laser Induced Fluorescence ◽

Single Strand ◽

Dna Mutation ◽

Laser Induced Fluorescence Detection ◽

Dna Mutation Analysis ◽

Conformation Polymorphism

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Single temperature endonuclease‐enhanced single‐strand conformation polymorphism/heteroduplex mutation analysis: evaluation of the method

Scandinavian Journal of Clinical and Laboratory Investigation ◽

10.1080/00365510410007017 ◽

2004 ◽

Vol 64 (6) ◽

pp. 605-608 ◽

Author(s):

J. Hofman‐Bang ◽

M. Christiansen

Keyword(s):

Mutation Analysis ◽

Single Strand Conformation Polymorphism ◽

Single Strand ◽

Single Temperature ◽

Conformation Polymorphism

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Detection ofp53 gene mutation: Analysis by single-strand conformation polymorphism and Cleavase fragment length polymorphism

Electrophoresis ◽

10.1002/(sici)1522-2683(19990101)20:6<1211::aid-elps1211>3.0.co;2-7 ◽

1999 ◽

Vol 20 (6) ◽

pp. 1211-1223 ◽

Author(s):

Catherine D. O'Connell ◽

Donald H. Atha ◽

Mary C. Oldenburg ◽

Jingxiang Tian ◽

Marianne Siebert ◽

...

Keyword(s):

Gene Mutation ◽

Mutation Analysis ◽

Length Polymorphism ◽

Fragment Length ◽

Fragment Length Polymorphism ◽

Single Strand Conformation Polymorphism ◽

Single Strand ◽

Gene Mutation Analysis ◽

Conformation Polymorphism

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A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

Journal of Clinical Investigation ◽

10.1172/jci118389 ◽

1996 ◽

Vol 97 (1) ◽

pp. 196-201 ◽

Author(s):

Q Lin ◽

J Rohrer ◽

R C Allen ◽

M Larché ◽

J M Greene ◽

...

Keyword(s):

Mutation Analysis ◽

Single Strand Conformation Polymorphism ◽

Cd40 Ligand ◽

Single Strand ◽

Carrier Detection ◽

Hyper Igm Syndrome ◽

Hyper Igm ◽

Conformation Polymorphism

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Mutation Analysis of Large Genomic Regions in Tumor DNA Using Single-Strand Conformation Polymorphism: Lessons from the ATM Gene

Molecular Analysis of Cancer ◽

10.1385/1-59259-135-3:115 ◽

2003 ◽

pp. 115-124 ◽

Author(s):

Igor Vorechovsky

Keyword(s):

Mutation Analysis ◽

Single Strand Conformation Polymorphism ◽

Single Strand ◽

Atm Gene ◽

Genomic Regions ◽

Tumor Dna ◽

Conformation Polymorphism

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