منابع مشابه
Genetic 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 type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confi...
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 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 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 Medical Genetics
سال: 1986
ISSN: 1468-6244
DOI: 10.1136/jmg.23.4.319