Concepedia

Haemophilia B: database of point mutations and short additions and deletions—fourth edition, 1993

F. Giannelli, P.M. Green, Katherine A. High, S. Sommer, M.‐C. Poon, Megan Ludwig, R. Schwaab, P H Reitsma, M. Goossens, A. Yoshioka,

Nucleic Acids Research · 1993 · 45 citations · 10 references

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Abstract

F. Giannelli, P.M. Green, K.A. High, S. Sommer, M.-C. Poon, M. Ludwig, R. Schwaab, P.H. Reitsma, M. Goossens, A. Yoshioka, G.G. Brownlee; Haemophilia B: da

References

10

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.

Dwight D. Koeberl, C. D. K. Bottema, Rhett P. Ketterling et al. · PubMed · 1990 · 141 citations

, , +11

Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

D.D. Koeberl, C. D. K. Bottema, J M Buerstedde et al. · PubMed · 1989 · 110 citations

, , +5

Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements.

C. D. K. Bottema, Rhett P. Ketterling, S Ii et al. · PubMed · 1991 · 99 citations

, , +16

The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.

C. D. K. Bottema, Rhett P. Ketterling, Hong-Sup Yoon et al. · PubMed · 1990 · 48 citations

, , +8

Molecular biology of the hemophilias.

Thompson Ar · PubMed · 1991 · 47 citations

, , +11