Molecular Characterization of a Novel Mutation in APRT Heterozygotes

1995 ◽  
pp. 675-678 ◽  
Author(s):  
Amrik Sahota ◽  
Steve Bye ◽  
Ju Chen ◽  
Nada H. Khattar ◽  
Mitchell S. Turker ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Novel Mutation

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation

2015 ◽  
Vol 136 (1) ◽  
pp. 168-174 ◽  
Author(s):  
Rosanna Asselta ◽  
Michela Robusto ◽  
Manuela Platé ◽  
Cristina Santoro ◽  
Flora Peyvandi ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Novel Mutation

scholarly journals Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene

2013 ◽  
Vol 8 (1) ◽  
Author(s):  
Mohamed Najah ◽  
Sarraj Mohamed Youssef ◽  
Hrira Mohamed Yahia ◽  
Slimani Afef ◽  
Jelassi Awatef ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Novel Mutation

scholarly journals Molecular Characterization of Isoniazid Resistance in Mycobacterium tuberculosis: Identification of a Novel Mutation in inhA

2006 ◽  
Vol 50 (3) ◽  
pp. 1075-1078 ◽  
Author(s):  
E. T. Y. Leung ◽  
P. L. Ho ◽  
K. Y. Yuen ◽  
W. L. Woo ◽  
T. H. Lam ◽  
...  
Keyword(s):  
Mycobacterium Tuberculosis ◽  
Molecular Characterization ◽  
Clinical Isolate ◽  
South China ◽  
Novel Mutation ◽  
Strong Association ◽  
Isoniazid Resistance ◽  
Allele Specific ◽  
China Region

ABSTRACT Multiplex allele-specific PCRs detecting katG codon 315 and mabA (bp −15) mutations could specifically identify 77.5% of isoniazid-resistant Mycobacterium tuberculosis strains in the South China region. One clinical isolate harboring InhA Ile194Thr was characterized to show strong association with isoniazid resistance in Mycobacterium tuberculosis.

Molecular characterization of a novel mutation in the factor XIII a subunit gene associated with a severe defect: importance of prophylactic substitution

2009 ◽  
Vol 20 (7) ◽  
pp. 605-606 ◽  
Author(s):  
Pierre Morange ◽  
Nawel Trigui ◽  
Corinne Frère ◽  
Hervé Chambost ◽  
Catherine Pouymayou ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Factor Xiii ◽  
Novel Mutation ◽  
Subunit Gene ◽  
A Subunit

scholarly journals Antithrombin Debrecen (p.Leu205Pro) – Clinical and molecular characterization of a novel mutation associated with severe thrombotic tendency

2017 ◽  
Vol 158 ◽  
pp. 1-7 ◽  
Author(s):  
Anna Selmeczi ◽  
Réka Gindele ◽  
Péter Ilonczai ◽  
Attila Fekete ◽  
István Komáromi ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Novel Mutation ◽  
Thrombotic Tendency

Molecular Characterization of Novel Mutation in E1 Flowering Gene Induced by Gamma Irradiation in Soybean

Genome ◽  
2021 ◽  
Author(s):  
Anita Rani ◽  
Vineet Kumar ◽  
Shruti Shukla ◽  
J G Manjaya
Keyword(s):  
Molecular Characterization ◽  
Gamma Rays ◽  
Novel Mutation ◽  
Critical Length ◽  
Day Length ◽  
Functional Variant ◽  
The World ◽  
Early Maturing ◽  
Maturity Period

Soybean is a typical short-day (SD) plant. It undergoes reproductive growth only when the day length becomes shorter than a critical length. Fourteen major genes/loci affecting soybean flowering and maturity period have been mapped till now. These are <i>E1 </i>and <i>E7</i> on chr6, <i>E1La</i>, <i>E1Lb</i>, <i>E6</i>, <i>E8</i> and <i>J</i> on chr 4, <i>E2</i> on Chr10, <i>E3</i> on Chr19, <i>E4</i> on chr20, <i>E9</i> on chr6, <i>E10</i> on chr8, <i>Dt1</i> on chr19 and <i>GmAGL1</i> on chr14. The functional allele of all of these genes except <i>E6</i>, <i>E9</i>, <i>J</i> and <i>GmAGL1</i> delay flowering while the non-functional counterpart accelerates flowering and maturity. The contribution of <i>E1</i> gene in delaying the flowering is highest. Four non-functional/dysfunctional allelic variants of <i>E1</i> gene are already known, which accelerates the flowering by 20 to 25 days and are being used in development of early maturing soybean varieties in many parts of the world. In this study, seeds of late maturing Indian variety, NRC 37 were irradiated with gamma rays to develop an early maturing variety. One early maturing variant was obtained. Molecular characterization of the gene responsible for early flowering proved it to be non-functional variant of <i>E1</i> gene with major deletion.

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