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Our newsletter appears once every two months and reports about new and improved products. In addition, it contains news and announcements from MRC-Holland, among others information on upcoming workshops, recently identified problems associated with the use of MLPA, new publications and calls for testing new products.

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MRC-Holland newsletter 2019 September snapshot

New Products
P314-ABCA3-SFTPC
Surfactant Metabolism Dysfunction Pulmonary 2 and 3
Improved Products
P350-CLCN1-KCNJ2
Myotonia congenita; Thomsen disease; Becker disease; Andersen-Tawil syndrome
P163-GJB-WFS1-POU3F4
Hearing loss; Wolfram syndrome type 1
P244-AIP-MEN1-CDKN1B
Multiple endocrine neoplasia (MEN) type1, 4; Pituitary adenoma predisposition syndrome
P431-FOXF1
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV); Feingold syndrome
P114-Long-QT
Long QT syndrome (LQT)
P155-EDS
Ehlers-Danlos syndrome type III (EDSIII); type IV (EDSIV)
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