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. 1977 Nov;29(6):619-26.

Congenital deficiency of human R-type binding proteins of cobalamin

C A Hall, J A Begley

Congenital deficiency of human R-type binding proteins of cobalamin

C A Hall et al. Am J Hum Genet. 1977 Nov.

Abstract

A family expressing the congenital absence of the R-type binders of cobalamin (Cbl), vitamin B-12, was restudied. The capacity to bind Cbl to R type binders was absent from serum, saliva, cerebrospinal fluid, gastric juice granulocytes, and granulocyte output of the propositus. Serum R did not carry Cbl in vivo. There was no immunological R binder in his saliva, but cross reacting material was detected in his serum. Evidence of a partial expression of the defect was observed in offspring of two affected persons. There were no obvious clinical consequences of the defect.

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References

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