| 1. |
- Fohlman, Jan, et al.
(författare)
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Enteroviroser i nya skepnader
- 1997
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Ingår i: Läkartidningen. ; 94, s. 2555-
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 2. |
- Kobbah, M., et al.
(författare)
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Serum lipoproteins and apolipoproteins in children during the first five years of diabetes
- 1997
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Ingår i: Acta Paediatrica. Supplement. - 0803-5326. ; 418, s. 11-14
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Tidskriftsartikel (refereegranskat)abstract
- Serum lipoproteins and apolipoproteins were followed in 34 children during a period of 5 years from the onset of diabetes. The group did not differ in these respects from a healthy control group after 5 years of disease. The variation in serum triglycerides and very-low-density lipoprotein (VLDL) triglycerides was more pronounced, some patients having high values. Serum triglycerides and VLDL lipids were significantly correlated to subcutaneous fat, measured as triceps and subscapular skinfolds. None of the patients had albuminuria, so lipid levels could not be related to renal albumin excretion. There was no significant correlation between any serum lipid and haemoglobin A1c.
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| 3. |
- Malmgren, H., et al.
(författare)
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Rapid detection of a mutation hot-spot in the human androgen receptor
- 1996
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Ingår i: Clinical Genetics. - 0009-9163 .- 1399-0004. ; 50:4, s. 202-205
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Tidskriftsartikel (refereegranskat)abstract
- Mutations of the human androgen receptor gene may disturb sexual development in males, and are inherited as an X-linked recessive trait. The vast majority of the mutations are familial. We have identified a large kindred with complete androgen insensitivity syndrome (CAIS) without detectable androgen-binding in genital skin fibroblasts. A single nucleotide substitution (C-to-T transition) was identified, resulting in an Arg855 to Cys in the androgen binding domain. To date, four independent CAIS families have been reported with this specific mutation that coincides with the propensity of cytosines at CpG dinucleotides to methylate. An allele-specific oligo-nucleotide assay was developed that allowed for the rapid and specific identification of this mutation hot-spot in individuals with androgen receptor insensitivity syndromes.
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