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X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations

✍ Scribed by Woodward, Karen; Kirtland, Karen; Dlouhy, Stephen; Raskind, Wendy; Bird, Thomas; Malcolm, Sue; Abeliovich, Dvorah


Book ID
110024974
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
201 KB
Volume
8
Category
Article
ISSN
1018-4813

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Hemophilia B in a female carrier due to
✍ Chan, Vivian; Chan, V. Wan Yin; Yip, Ben; Chim, C. S.; Chan, T. K. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 234 KB πŸ‘ 2 views

A novel missense mutation (codon 351, GCT (Ala) β†’ CCT (Pro)) of the FIX gene was characterised in a young female with mild hemophilia B. She is heterozygous for the FIX mutation inherited from her carrier mother. Analysis of the methyl-sensitive Hpa II sites at the 5 end of the hypoxanthine phosphor