| Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Robertson S.P., Jenkins Z.A., Morgan T., Ades L., Aftimos S., Boute O., Fiskerstrand T., Garcia-Minaur S., Grix A., Green A. et al.
Am. J. Med. Genet. A 140:1726-1736(2006) · Mapped (11) |
| A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease. Hou Y., McInnes B., Hinek A., Karpati G., Mahuran D.
J. Biol. Chem. 273:21386-21392(1998) · UniProtKB (1) |
| Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. Neote K., McInnes B., Mahuran D.J., Gravel R.A.
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| Isolation and expression of a full-length cDNA encoding the human G-M2 activator protein. Xie B., McInnes B., Neote K., Lamhonwah A.-M., Mahuran D.
Biochem. Biophys. Res. Commun. 177:1217-1223(1991) · UniProtKB (1) |
| Identification of a processed pseudogene related to the functional gene encoding the GM2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5. Xie B., Kennedy J.L., McInnes B., Auger D., Mahuran D.J.
Genomics 14:796-798(1992) · UniProtKB (1) |
| An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. McInnes B., Potier M., Wakamatsu N., Melancon S.B., Klavins M.H., Tsuji S., Mahuran D.J.
J. Clin. Invest. 90:306-314(1992) · Mapped (2) |
