Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10833678 | Molecular Genetics and Metabolism | 2012 | 6 Pages |
Abstract
⺠We report the genotypes and phenotypes of Thai patients with MMA. ⺠The mut and cblB patients had severe phenotypes compared to mild phenotypes of the cblA patients. ⺠7 novel mutations in the causative genes identified. ⺠The intron 6 polymorphisms of the MMAB gene could be a pathogenic allele.
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Authors
Nithiwat Vatanavicharn, Voraratt Champattanachai, Somporn Liammongkolkul, Phannee Sawangareetrakul, Siriporn Keeratichamroen, James R. Ketudat Cairns, Chantragan Srisomsap, Achara Sathienkijkanchai, Vorasuk Shotelersuk, Mahattana Kamolsilp,