منابع مشابه
Genetic heterogeneity in inherited disease.
During the last few years a quiet revolution has been taking place in our ideas about the genetical basis of inherited disease. One way in which this has been manifested is by the increasing use in the literature of the term 'genetic heterogeneity', a term which is usually meant to imply that the same or very similar clinical syndromes may be produced by a number of quite different gene mutatio...
متن کاملPhenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series
The largest kindred with inherited prion disease P102L, historically Gerstmann-Sträussler-Scheinker syndrome, originates from central England, with émigrés now resident in various parts of the English-speaking world. We have collected data from 84 patients in the large UK kindred and numerous small unrelated pedigrees to investigate phenotypic heterogeneity and modifying factors. This collectio...
متن کاملGenetic Heterogeneity in Human Disease
Strong evidence suggests that rare mutations of severe effect are responsible for a substantial portion of complex human disease. Evolutionary forces generate vast genetic heterogeneity in human illness by introducing many new variants in each generation. Current sequencing technologies offer the possibility of finding rare disease-causing mutations and the genes that harbor them.
متن کاملGenetic heterogeneity in Gaucher disease.
Considerable clinical variability occurs in adult Gaucher disease type I and three main subtypes may be delineated: a very mild form, a severe form, and a moderate form which itself presents various clinical manifestations. A study based on 25 families from our clinic and a review of published reports showed that when both parents were heterozygous and more than one child was affected with Gauc...
متن کاملGenetic heterogeneity in Parkinson disease
Neurology 2012;79:619–620 Parkinson disease (PD) is considered a sporadic neurodegenerative disorder, though genetic factors are frequently involved in its etiology. That some familial presentations of PD have been associated with different mutated genes suggests that some genetic variants can also modulate the risk for “nonfamilial” presentation of PD. The hypothesis-free genomewide associatio...
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ژورنال
عنوان ژورنال: Journal of Clinical Pathology
سال: 1974
ISSN: 0021-9746
DOI: 10.1136/jcp.27.suppl_8.32