DIATHEVA - Biomanufacturing of innovative diagnostics and reagents

EMD gene amplification kit for direct sequencing

The kit is composed of 6 strips. Each strip consists of 8 (4+4) tubes and allows the amplification of two DNA samples. Each vial contains all reagents and primers necessary for the amplification of a specific EMD gene region.


Ready-to-use strips for the simultaneous amplification of human EMD gene exons with modified primers: amplicons can be used for direct sequencing with M13 universal primers.


PCR primers are composed of a specific EMD target sequence with flanking priming sites for M13 Forward or Reverse primers.


Diatheva is a member of the"NETWORK ITALIANO LAMINOPATIE" , which is made up of the main italian centers strongly involved in clinical or molecular diagnosis and biomedical research on diseases related to defects of the nuclear lamina.


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Info

Emerin is a serine-rich inner nuclear membrane protein and a member of the nuclear lamina-associated protein family; it is expressed in cardiac, skeletal, and smooth muscle.

Multiple functions for emerin have been proposed, including the stabilization of the nuclear membrane during muscle contraction and organizational maintenance of the nuclear membrane during cell division.

Emerin is encoded by the gene EMD, which is composed of six exons and is located at Xq28.

X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD) arises as consequence of mutations in EMD and is characterized by early contractures of the Achilles tendons, elbows, and post-cervical muscles with humero-peroneal weakness and muscle wasting. Affected individuals also have cardiac conduction defects and may have a generalized cardiomyopathy.

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