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Ataxia-telangiectas...
Ataxia-telangiectasia kartlagd i Sverige
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Lahdesmaki, A (author)
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Arinbjarnarson, K (author)
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Arvidsson, J (author)
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- El-Segaier, Milad (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine
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Fasth, A (author)
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Fernell, E (author)
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Gustafsson, D (author)
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- Oxelius, Vivi-Anne (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine
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Risberg, K (author)
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Yuen, J (author)
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Zetterlund, P (author)
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von Zweigbergk, M (author)
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Ahsgren, I (author)
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Hammarstrom, L (author)
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(creator_code:org_t)
- 2000
- 2000
- Swedish.
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In: Läkartidningen. - 0023-7205. ; 97:40, s. 4461-4467
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http://ltarkiv.lakar... (free)
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Abstract
Subject headings
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- Ataxia-telangiectasia (AT) is a rare autosomal recessive disease with a complex phenotype involving cerebellar degeneration, immunodeficiency, cancer risk and radiosensitivity. Our aim has been to identify Swedish AT patients in order to study the possible "Swedish phenotype" of the disease. In the 19 patients identified in Sweden we found a phenotype fairly similar to what has been described internationally, with the exception of some differences including lower cancer incidence in patients and their relatives and somewhat more pronounced immunodeficiency and concomitant susceptibility to infections.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Keyword
- Fenotyp
- Genetiska sjukdomsanlag
- Ataxia telangiektasia
Publication and Content Type
- art (subject category)
- ref (subject category)
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To the university's database
- By the author/editor
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Lahdesmaki, A
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Arinbjarnarson, ...
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Arvidsson, J
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El-Segaier, Mila ...
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Fasth, A
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Fernell, E
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show more...
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Gustafsson, D
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Oxelius, Vivi-An ...
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Risberg, K
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Yuen, J
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Zetterlund, P
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von Zweigbergk, ...
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Ahsgren, I
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Hammarstrom, L
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
- Articles in the publication
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Läkartidningen
- By the university
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Lund University