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Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene

✍ Scribed by Melinda Erdős; Krisztina Alapi; István Balogh; György Oroszlán; Éva Rákóczi; János Sümegi; László Maródi

Book ID: 113616210
Publisher: Elsevier Science
Year: 2006
Tongue: English
Weight: 400 KB
Volume: 34
Category: Article
ISSN: 0301-472X
DOI: 10.1016/j.exphem.2006.06.009

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