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DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
Am J Hum Genet. 2004 Jun;74(6):1128-35. doi: 10.1086/421054. Epub 2004 Apr 21.
Am J Hum Genet. 2004.
PMID: 15106121
Free PMC article.
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.
Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L, Bjørkhaug L, Sagen JV, Aksnes L, Søvik O, Lombardo D, Molven A, Njølstad PR.
Raeder H, et al.
Nat Genet. 2006 Jan;38(1):54-62. doi: 10.1038/ng1708. Epub 2005 Dec 20.
Nat Genet. 2006.
PMID: 16369531
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