Molecular characterization of three new mutations causing C5 deficiency in two non-related families.
López-Lera A, Garrido S, de la Cruz RM, Fontán G, López-Trascasa M Mol Immunol 2009(11-12): 2340-7
[PubMed abstract].
2005
Linking C5 deficiency to an exonic splicing enhancer mutation.
Pfarr N, Prawitt D, Kirschfink M, Schroff C, Knuf M, Habermehl P, Mannhardt W, Zepp F, Fairbrother WG, Fairbrother W, Loos M, Burge CB, Pohlenz J J Immunol 2005(7): 4172-7
[PubMed abstract].
1995
Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.
Wang X, Fleischer DT, Whitehead WT, Haviland DL, Rosenfeld SI, Leddy JP, Snyderman R, Wetsel RA J Immunol 1995(10): 5464-71
[PubMed abstract].