A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.

Authors :: Alsavaf MB
Verboon JM
Dogan ME
Azizoglu ZB
Okus FZ
Ozcan A
Dundar M
Eken A
Donmez-Altuntas H
Sankaran VG
Unal E
Source :: British journal of haematology [Br J Haematol] 2022 Jun; Vol. 197 (6), pp. e88-e93. Date of Electronic Publication: 2022 Mar 17.
Publication Year :: 2022

Subjects :: HSP40 Heat-Shock Proteins genetics
Humans
Mutation
Mutation, Missense
Shwachman-Diamond Syndrome genetics
Bone Marrow Diseases genetics
Exocrine Pancreatic Insufficiency genetics
Lipomatosis genetics

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