Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles

Article Abstract:

Research has linked the expressed activity of 29 specific mutant alleles to adenosine deaminase deficiency through genotype-phenotype correlations. The expressed activity of mutant and wild-type alleles was found to range across five orders of magnitude, with wild-type activity expressed in 26 alleles and partial deficiency in three alleles, resulting in the immunodeficiency disorder.

Research, Causes of, Immunological deficiency syndromes, Immunologic deficiency syndromes, Immunodeficiency, Adenosine deaminase deficiency, ADA deficiency

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Robert J. Gorlin, 1923-2006: Evolution of his phenotype

Article Abstract:

Robert J. Gorlin, a trained dentist became the second most cited clinical geneticist in the world. His name was become inseparably linked to the nevoid basal cell carcinoma syndrome, which first became known throughout Europe as Gorlin syndrome.

Gorlin, Robert J.

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Arthur G. Steinberg, 1912-2006

Article Abstract:

Arthur G. Steinberg was a scientist who worked mainly on the genetics of immunoglobulins. He adopted many views and attitudes toward race and racism, which he admired in Dunn.

Steinberg, Arthur G.

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