Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.
نویسندگان
چکیده
The fifth 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 < 30bp) identified in haemophilia B patients. The 1,142 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.
منابع مشابه
Haemophilia B: database of point mutations and short additions and deletions, 7th edition
The seventh 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 1535 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in c...
متن کاملHaemophilia B (sixth edition): a database of point mutations and short additions and deletions
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 circ...
متن کاملHaemophilia B: database of point mutations and short additions and deletions--eighth edition
The eighth edition of the haemophilia B database (http://www.umds.ac. uk/molgen/haemBdatabase.htm ) lists in an 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 1713 patient entries are ordered by the nucleotide number of their mutation. Where known, details are...
متن کاملHaemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993
The data base below lists known point mutations and short deletions and additions in the factor IX gene, causing the bleeding disorder haemophilia B or Christmas disease (for reviews, see Brownlee 1988, Giannelli 1989, Thompson 1990, Green et al 1991a) These mutations result in a defective'clotting factor IX-a glycoprotein of 415 amino acid residues normally present in plasma and an essential c...
متن کاملHaemophilia B: database of point mutations and short additions and deletions--third edition, 1992.
The data base below lists known point mutations and short deletions and additions in the factor IX gene, causing the bleeding disorder haemophilia B or Christmas disease (for reviews, see Brownlee 1988, Giannelli 1989, Thompson 1990, Green et al 1991a) These mutations result in a defective clotting factor EX—a glycoprotein of 415 amino acid residues normally present in plasma and an essential c...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Nucleic acids research
دوره 22 17 شماره
صفحات -
تاریخ انتشار 1994