PubMed for id: 468543

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Subject: PubMed for id: 468543 - PubMed

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Year	Number of Results
1998	1
2005	1
2024	0

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Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

Montalvo AL, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG. Montalvo AL, et al. Hum Mutat. 2005 Sep;26(3):282. doi: 10.1002/humu.9363. Hum Mutat. 2005. PMID: 16088929

W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.

Petroulakis E, Cao Z, Clarke JT, Mahuran DJ, Lee G, Triggs-Raine B. Petroulakis E, et al. Hum Mutat. 1998;11(6):432-42. doi: 10.1002/(SICI)1098-1004(1998)11:6<432::AID-HUMU3>3.0.CO;2-Z. Hum Mutat. 1998. PMID: 9603435

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