Genetics, Haartmaninkatu 2, PO Box 140, Helsinki, 00029 HUS, Finland; Tiina.Alitalo{at}hus.fi Methods: All 48 exons of the CACNA1F gene were screened for mutations by DNA sequencing. RNA from cultured ...

DEB is derived from mutations in the type VII collagen gene (COL7A1), encoding a large collagenous protein that is the predominant, if not exclusive, component of the anchoring fibrils at the ...

The objective of this study was to identify polyploid plants from citrus rootstocks and to evaluate the influence of the genetic constitution and of the environment on the frequency of chromosome ...

It may be used to identify the presence of small inversions within regions presenting a copy number gain identified by chromosome microarray. Distinguishing small, inverted duplications from direct ...

In house cats, orangeness appears to be sex-linked; it almost always occurs in males because of a mutation on the sex-determining X chromosome. Scientists have long been unable to pinpoint any ...

The pattern suggested it was down to an unknown “orange gene” on the X chromosome, but identifying that gene had eluded scientists until now. Researchers at Kyushu University in Japan have pinpointed ...

A baby born with a rare and devastating genetic condition has become the first person ever to be successfully treated with a personalized CRISPR therapy. After receiving three doses of the therapy ...

Brugada syndrome (BrS) is an arrhythmogenic disorder that has been linked to mutations in SCN5A, the gene encoding for the pore-forming α-subunit of the cardiac sodium channel. Typically, BrS ...

The rate at which mutations arise ... called segmental duplications. High mutation rates were also observed in the compact ‘heterochromatin’ parts of the Y chromosome and in tandem repeat ...

It involves a mutation at a single location in the genome that has a big effect on colon cancer risk. The past 25 years of human genetics have shown researchers that these sorts of large-effect ...

CNVs range widely in size from single genes to large segmental deletions or duplications of millions of base ... of individuals with 22q11.2DS is attributable to other mutations on the nondeleted ...