منابع مشابه
Phytosterolaemia in three unrelated South African families.
Phytosterolaemia (beta-sitosterolaemia), a rare, autosomal recessive disorder, has not hitherto been reported in Southern Africa. We report four new homozygous patients, from three unrelated families with significant beta-sitosterolaemia (6.6-11.3%), campesterolaemia (2.2-4.6%) and clearly detectable, though unquantified, levels of cholestanol. Three of the four patients had characteristic cuta...
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Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...
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the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or mater...
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Hereditary chin trembling is a rare autosomal dominant disease often considered as an "essential tremor variant". The clinical and neurophysiological data obtained in a new white family lead to the suggestion that this abnormal involuntary movement is a focal variant of hereditary essential myoclonus.
متن کاملIdeal Amenability of Banach Algebras and Some Hereditary Properties
Let A be a Banach algebra. A is called ideally amenable if for every closed ideal I of A, the first cohomology group of A with coefficients in I* is trivial. We investigate the closed ideals I for which H1 (A,I* )={0}, whenever A is weakly amenable or a biflat Banach algebra. Also we give some hereditary properties of ideal amenability.
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2019
ISSN: 0007-1048,1365-2141
DOI: 10.1111/bjh.16076