Wolff. 1988. Branching enzyme in erythrocytes: de- tection of type IV glycogenosis homozygotes and hetero- zygotes. J. Inherited Metab. Dis. 11:[Suppl. 2]: 252-254.Shin YS, Steiguber H, Klemm P, Endres W, Schwab O, Wolff G. Branching enzyme in erythrocytes: detection of...
The Coffin-Lowry syndrome: a simply inherited trait comprising mental retardation, faciodigital anomalies and skeletal involvement. For proper genetic counseling, the clinical delineation of simply inherited mental retardation syndromes is essential. In the present study we describe the clinical and genetic...
- 《Journal of Inherited Metabolic Disease》 被引量: 1发表: 1984年 Tay-sachs disease heterozygote detection in Brazil: Comparison between tears and leukocytes as β-hexosaminidase a source Hexosaminidase A activities were determined in tears and peripheral leukocytes of carriers and noncarriers for ...
1991, Neurochemical Research Phenylketonuria: Epitome of Human Biochemical Genetics 1980, New England Journal of Medicine Malignant hyperphenylalaninaemia-Current status (June 1977) 1978, Journal of Inherited Metabolic Disease View all citing articles on ScopusView full text ...
recombination will be almost imperceptible, and genes in this region will appear to be inherited almost independently from sex, as will be the case also at distances much greater than we have explored. For lengths much greater than our figures illustrate, it is to be presumed that the ...
L., and Spicer, S. J. (1974). Hemoglobin G-Philadelphia/S—A family study of an inherited hybrid hemoglobin. Am. J. Clin. Pathol. 6192. Google Scholar Sancar, G. B., Tatsis, B., Cedeno, M. M., and Rieder, R. F. (1980). Proportion of hemoglobin G-Philadelphia (α2...
Family studies, however, make it unlikely that the "high G gamma" condition is inherited in a simple mendelian fashion assuming a change in a regulatory mechanism. The presence of the A gamma T mutation, occurring either in cis or in trans to the beta S mutation, has been used to ...
The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterised by bitemporal or preauricular scar-like defects, the former resembling 'forceps marks'. Recently, different homozygous TWIST2 nonsense mutations were reported in unrelated Setleis syndrome...
recombination will be almost imperceptible, and genes in this region will appear to be inherited almost independently from sex, as will be the case also at distances much greater than we have explored. For lengths much greater than our figures illustrate, it is to be presumed that the ...
support in the diagnostic process or counseling on potential treatment of these patients. Informed consent was obtained from the patients or their parents and local ethical rules were followed. Ethical approval was obtained from the Office of Human Subjects Research (OHSR) at the NIH, Bethesda, ...