Segmental isodisomy and skewed X-inactivation resulting in haemophilia B in a female.
Sellner
L N
LN
Price
P J
PJ
D041321:Chromosomes, Human, X / Q000235:genetics; D005164:Factor IX / Q000235:genetics; D005260:Female; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D007223:Infant; D024182:Uniparental Disomy; D049951:X Chromosome Inactivation
D005164:Factor IX