'A heterozygous mutation of the elastin gene ( ELN: p.val154met) fully co-segregates with classic marfan phenotype in a sardinian family: a possible novel disease-gene?'

Authors :: Rosanna Asproni
Giovanna Piras
Caterina Gaddeo
Giovanni Lorenzoni
Nicola Marziliano
Valerio Carboni
Maria Monne
Mariano Intrieri
Antonella Uras
Pierluigi Merella
Valeria Orrù
Gavino Casu
Paola Berne
Source :: Journal of Investigative Genomics. 5
Publication Year :: 2018
Publisher :: MedCrave Group, LLC, 2018.

Subjects :: Genetics
DNA repair
Transcription (biology)
Genetic variation
biology.protein
Genomics
Biology
Gene
Phenotype
Elastin
Gene knockout

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