scholarly journals Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations

2009 ◽  
Vol 54 (2) ◽  
pp. 273-278 ◽  
Author(s):  
Anke K. Bergmann ◽  
Dean R. Campagna ◽  
Erin M. McLoughlin ◽  
Suneet Agarwal ◽  
Mark D. Fleming ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Genetic Heterogeneity ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Novel Mutations ◽  
Sideroblastic Anemia ◽  
Congenital Sideroblastic Anemia

Molecular genetic analysis of the cystathionine β-synthase gene in Portuguese homocystinuria patients: three novel mutations

2008 ◽  
Vol 60 (2) ◽  
pp. 161-163 ◽  
Author(s):  
R Castro ◽  
SG Heil ◽  
I Rivera ◽  
C Jakobs ◽  
IT De Almeida ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Novel Mutations

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity

1997 ◽  
Vol 100 (5-6) ◽  
pp. 520-524 ◽  
Author(s):  
J. C. Oosterwijk ◽  
Gabriela Richard ◽  
Michiel J. R. van der Wielen ◽  
E. van de Vosse ◽  
Wolfgang Harth ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Genetic Heterogeneity ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Gene Localization ◽  
Keratosis Follicularis

scholarly journals Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene

2016 ◽  
Vol 2 (3) ◽  
pp. 261-264 ◽  
Author(s):  
Anders Krogh Broendberg ◽  
Lisbeth Noerum Pedersen ◽  
Jens Cosedis Nielsen ◽  
Henrik Kjaerulf Jensen
Keyword(s):  
Genetic Analysis ◽  
Brugada Syndrome ◽  
Molecular Genetic ◽  
Large Deletion ◽  
Molecular Genetic Analysis ◽  
Scn5a Gene
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