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RMRP mutations in hematological disorders

✍ Scribed by SA Graf; RT Calado; S Kajigaya; NS Young


Book ID
110888372
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
72 KB
Volume
71
Category
Article
ISSN
0009-9163

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## Abstract Cartilage hair hypoplasia (CHH) or McKusick type metaphyseal chondrodysplasia (MCD) (OMIM # 250250) is due to either the homozygous or compound heterozygous mutations in the nuclear encoded, non‐coding RNA gene __RMRP__. Twenty‐seven CHH patients were referred for molecular evaluation o

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