Human Genetics. Proceedings of the 6th International Congress..., Sept. 13-18, 1981, Jerusalem: Medical aspects. II, Teil 2Batsheva Bonné-Tamir Liss, 1982 - 619 Seiten |
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Seite 163
... from genetic considerations , the receptors that are functional in heterozygotes show a normal affinity for LDL and thus appear to represent the product of the normal allele at the LDL receptor locus . Under LDL Receptor Mutations / 163.
... from genetic considerations , the receptors that are functional in heterozygotes show a normal affinity for LDL and thus appear to represent the product of the normal allele at the LDL receptor locus . Under LDL Receptor Mutations / 163.
Seite 166
... receptor activity in all assays ( 5–15 % of normal ) , suggesting that each member of a sibpair has inherited the same alleles . Many of the “ homozygotes ” in the receptor - defective class are likely to represent genetic compounds ...
... receptor activity in all assays ( 5–15 % of normal ) , suggesting that each member of a sibpair has inherited the same alleles . Many of the “ homozygotes ” in the receptor - defective class are likely to represent genetic compounds ...
Seite 168
Medical aspects. II Batsheva Bonné-Tamir. the location of the LDL receptor on the cell membrane . Whereas in normal cells the receptor is concentrated in coated pits , in the internalization - defective cells the receptors are located at ...
Medical aspects. II Batsheva Bonné-Tamir. the location of the LDL receptor on the cell membrane . Whereas in normal cells the receptor is concentrated in coated pits , in the internalization - defective cells the receptors are located at ...
Inhalt
Carrier Detection | 15 |
HLA and Infectious Diseases | 37 |
HLA and Diabetes | 55 |
Urheberrecht | |
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abnormalities activity addition affected allele analysis antigens appears association binding biochemical blood carrier cells changes chromosome clinical common complex cultured defect deficiency Department determined diabetes diabetes mellitus diagnosis disease disorders distribution dominant environmental enzyme estimated et al evidence expression factors fibroblasts findings frequency gene glucose haplotypes heterogeneity heterozygotes Hum Genet human hypertension IDDM immune important increased indicated individuals inheritance internalization involved Italy levels linkage linked locus lysosomal major marker measured Medical method mode of inheritance multiple mutant neural tube normal observed occur origin pairs parents patients phenotype population possible pregnancy prenatal present problems protein recently receptor recessive relative reported Research response risk screening showed shown significant specific structure studies suggested syndrome Table tissue trait translocation tumor twin ulcer University values York