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Haemophilia B (sixth edition): a database of point mutations and short additions and deletions
Author(s) -
F. Giannelli
Publication year - 1996
Publication title -
nucleic acids research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 9.008
H-Index - 537
eISSN - 1362-4954
pISSN - 0305-1048
DOI - 10.1093/nar/24.1.103
Subject(s) - haemophilia b , point mutation , biology , mutation , factor ix , genetics , haemophilia , haemophilia a , nucleotide , gene
The sixth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1380 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on factor IX activity, factor IX antigen in circulation and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated.

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