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Mild haemophilia: a disease with many faces and many unexpected pitfalls

✍ Scribed by K. PEERLINCK; M. JACQUEMIN


Book ID
108775533
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
71 KB
Volume
16
Category
Article
ISSN
1351-8216

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Ciliopathies are an emerging group of disorders, caused by mutations in ciliary genes. One of the most intriguing disease genes associated with ciliopathies is CEP290, in which mutations cause a wide variety of distinct phenotypes, ranging from isolated blindness over Senior-Loken syndrome (SLS), ne