F X Arredondo-Vega

The mouse lethal nonagouti (a(x)) mutation deletes the S-adenosylhomocysteine hydrolase (Ahcy) gene.

Miles W. Miller, David M. Duhl, Ben M. Winkes et al. · The EMBO Journal · 1994 · 112 citations · Full text

S-adenosylhomocysteine Hydrolase, Knockout Mouse, Somatic Variant +9

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.

Inés Santisteban, F X Arredondo-Vega, S Kelly et al. · Journal of Clinical Investigation · 1993 · 100 citations · Full text

Active Ada, Genetics, Immunodeficiencies +17

Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter.

Ai-li Wang, F X Arredondo-Vega, Philip F. Giampietro et al. · Proceedings of the National Academy of Sciences · 1981 · 63 citations

Human Porphobilinogen Deaminase, Genetics, Human Chromosome Complement +19

Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA

Inés Santisteban, F X Arredondo-Vega, S Kelly et al. · Human Molecular Genetics · 1995 · 61 citations

Assignment of the gene for acid beta-glucosidase to human chromosome 1.

Bridget Shafit‐Zagardo, E.A. Devine, M. Smith et al. · PubMed · 1981 · 43 citations