Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. A genomewide scan of families with SDS was terminated at ∼50% completion, with the identification of chromosome 7 markers that showed lin...

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Библиографические подробности
Главные авторы: Goobie, Sharan, Popovic, Maja, Morrison, Jodi, Ellis, Lynda, Ginzberg, Hedy, Boocock, Graeme R. B., Ehtesham, Nadia, Bétard, Christine, Brewer, Carl G., Roslin, Nicole M., Hudson, Thomas J., Morgan, Kenneth, Fujiwara, T. Mary, Durie, Peter R., Rommens, Johanna M.
Формат: Artigo
Язык:Inglês
Опубликовано: The American Society of Human Genetics 2001
Предметы:
Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1275624/
https://ncbi.nlm.nih.gov/pubmed/11254457
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