Scritto da Journal of Medical Genetics current issue |
Background
BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and p ... ...
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Scritto da Journal of Medical Genetics current issue |
Background
We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay. Methods
In 400 patients wi ... ...
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Scritto da Journal of Medical Genetics current issue |
Background
Laminins are heterotrimeric complexes, consisting of α, β and subunits that form a major component of basement membranes and extracellular matrix. Laminin complexes have different, but often overlapping, distr ... ...
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