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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1977 Nov;29(6):619–626.

Congenital deficiency of human R-type binding proteins of cobalamin.

C A Hall, J A Begley
PMCID: PMC1685523  PMID: 930926

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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