Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome

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Bibliographic Details
Published inBlood Vol. 129; no. 11; pp. 1557 - 1562
Main Authors Dhanraj, Santhosh, Matveev, Anna, Li, Hongbing, Lauhasurayotin, Supanun, Jardine, Lawrence, Cada, Michaela, Zlateska, Bozana, Tailor, Chetankumar S., Zhou, Joseph, Mendoza-Londono, Roberto, Vincent, Ajoy, Durie, Peter R., Scherer, Stephen W., Rommens, Johanna M., Heon, Elise, Dror, Yigal
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 16.03.2017
Subjects
Alleles
Bone Marrow Diseases - genetics
Child, Preschool
Exocrine Pancreatic Insufficiency - genetics
Female
HSP40 Heat-Shock Proteins - genetics
Humans
Infant, Newborn
Lipomatosis - genetics
Mutation
Shwachman-Diamond Syndrome
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ISSN0006-4971
1528-0020
DOI10.1182/blood-2016-08-735431

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Summary:There is an Inside Blood Commentary on this article in this issue.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood-2016-08-735431