Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) (vol 16, pg 88, 1997)

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Matthijs, G
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10.1038/ng0797-316
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Q3 [遗传学];
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071007 ; 090102 ;
摘要
gert Matthijis et al. Nature Genet. 16, 88–l92 (1997). There is an error in Table 1 on page 88. For families 4, 5, 9, 27, 31 and 41, mutation 2 should read: 425G/A at the nucleotide level, which corresponds to R141H at the amino acid level. The error does not affect our general conclusions, but results in a different frequency for the mutations R141H (far more prevalent) and R162W (observed only once, in patient 42).
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页码:316 / 316
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[1]   Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) [J].
Matthijs, G ;
Schollen, E ;
Pardon, E ;
VeigaDaCunha, M ;
Jaeken, J ;
Cassiman, JJ ;
VanSchaftingen, E .
NATURE GENETICS, 1997, 16 (01) :88-92