Hemophilia B
| Disorder | |
|---|---|
| OMIM #: | +306900 (Click to access OMIM database) |
| Disorder: | Hemophilia B |
| Also known as: | HemB Christmas disease Factor IX deficiency Plasma thromboplastin component |
| Clinical | |
| Phenotype: | |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Amish | |
| Gene: | F9 |
| Base Change: | C>T, at nucleotide 31008 |
| Amino Acid Change: | thr 296 --> met |
| Last updated: | 2007-08-02 |
| References |
|---|
| Ketterling RP, Bottema CD, Koeberl DD, Ii S, Sommer SS. (1991) T296---M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection. Human Genet. 87:333-337. PubMed ID: 1864609 |
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