1 - 10 of 11 articles
SUMMARY Given sets of measurements on a pair of homologous chromosomes from an individual and both his/her parents, methods for estimating the probability that the individual has inherited any particular two of the four parental homologues are discussed and compared. A new method with several...
SUMMARY A boy with a duplication of the region lp31.4 → 1p22.1 has the PGM1 phenotype 2+2‐l+.
SUMMARY Life table techniques permit a more appropriate assessment of the effect of such factors as sex, line of transmission, birth cohort and kindred upon the age at onset and the duration of survival subsequent to onset in Huntington's chorea.
SUMMARY The origin of the additional chromosome was studied in 45 trisomic‐21 Down‐syndrome patients. In 17 patients the additional chromosome was maternal, in 2 it was paternal and in the remaining 26 the parental origin could not be determined. Acrocentric chromosome association was studied in...
SUMMARY Nineteen enzymes showing highest activity in liver were examined in human and rodent tissues and cultured cells using starch‐gel electophoresis. The rat hepatoma line Faza 967 strongly expressed 13 of these enzymes. A series of somatic cell hybrids, constructed between Faza and cells of...
SUMMARY The human immunoglobulin heavy chain gene complex has been assigned to chromosome 14 by filter hybridization of restriction digests of mouse‐human somatic cell hybrids. Cloned DNA probes for both variable and constant regions were used.
SUMMARY Accurate quantitative assessment of risk in Huntington's chorea necessitates unbiased estimation of the distribution of age at onset. Previous studies have quoted the mean observed age at onset but this is biased, containing no contribution from heterozygotes who have not manifested the...
SUMMARY The electrophoretic patterns of human red cell phosphoglucomutase (PGM) were determined by standard starch‐gel electrophoresis on two aliquots of haemolysate, one of which was previously heat‐treated. Samples from 67 families and 417 unrelated healthy subjects were examined. Heat...
Book reviewed in this article: Advances in Human Genetics. Volume 10. Edited by H. Harris and K. Hirschhorn Lysosomes and lysosomal storage diseases. (Advances in Pediatric Research.) Edited by J. W. Callahan and J. A. Lowden Genes, Chromosomes and Neoplasia. 33rd Symposium on Fundamental Cancer...
SUMMARY Danish family material comprising 1664 unrelated individuals (parents) and 3169 children, as well as 699 grandparents of the same families, were examined for paraoxonase activity. A micro‐autoanalyser method, comprising a primary testing in tris buffer at pH 7‐5 and, in the case of...
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