PHENOTYPE-GENOTYPE CORRELATION OF HAEMOGLOBINOPATHY H DISEASE IN GREECE 31
نویسندگان
چکیده
منابع مشابه
Phenotype-genotype correlation in haemoglobin H disease in childhood.
In this study we used restriction endonuclease mapping to characterise the molecular defect responsible for haemoglobin H disease in 14 Sardinian children. The resulting genotypes were then correlated with the respective clinical and haematological phenotypes. We found that patients with the combination of non-deletion alpha(+)-thalassaemia [(alpha alpha)th] and deletion alpha(0)-thalassaemia (...
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OBJECTIVE To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). RESULTS Forty-eight patients were included (28 men, 20 women, average age 21 year...
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OBJECTIVE Vanishing white matter (VWM) is an autosomal recessive leukoencephalopathy characterized by slowly progressive ataxia and spasticity with additional stress-provoked episodes of rapid and major deterioration. The disease is caused by mutations in the genes encoding the subunits of eukaryotic initiation factor 2B, which is pivotal in translation of mRNAs into proteins. The disease onset...
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BACKGROUND Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family. METHODS For a large series of GSDII patients we collected some clinical data as age of onset of the disease, presence or absence of muscular pain, Walt...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1997
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199705000-00050