TY - JOUR
T1 - Mutation analysis of the MCM gene in Israeli patients with mut0 disease
AU - Berger, Itai
AU - Shaag, Avraham
AU - Anikster, Yair
AU - Baumgartner, E. Regula
AU - Bar-Meir, Maskit
AU - Joseph, Adina
AU - Elpeleg, Orly N.
N1 - Funding Information:
This work was supported by the Israeli Ministry of Health Grant 3272. The expert technical assistance of E. Chen is acknowledged.
PY - 2001
Y1 - 2001
N2 - Three novel mutations (IVS8+3a → g, N219Y, and E414X) were identified in 6 unrelated patients with mut0 methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a → g mutation may contribute to their later age of onset (3-11 months of age). Nonetheless, delayed onset was not associated with better neurological outcome and prolonged survival. The large number of undiagnosed dead sibs in most families suggests that the disease is largely underdiagnosed in this region.
AB - Three novel mutations (IVS8+3a → g, N219Y, and E414X) were identified in 6 unrelated patients with mut0 methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a → g mutation may contribute to their later age of onset (3-11 months of age). Nonetheless, delayed onset was not associated with better neurological outcome and prolonged survival. The large number of undiagnosed dead sibs in most families suggests that the disease is largely underdiagnosed in this region.
KW - Methylmalonyl-CoA mutase
KW - Mut methylmalonic acidemia
UR - http://www.scopus.com/inward/record.url?scp=0035716878&partnerID=8YFLogxK
U2 - 10.1006/mgme.2001.3166
DO - 10.1006/mgme.2001.3166
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C2 - 11350191
AN - SCOPUS:0035716878
SN - 1096-7192
VL - 73
SP - 107
EP - 110
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 1
ER -