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Items: 1 to 20 of 164

1.
2.

Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level.

Drucker L, Golan A, Boles DJ, el Bedour K, Proia RL, Navon R.

Hum Mutat. 1997;9(3):260-4.

PMID:
9090529
3.

A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.

Fernandes MJ, Hechtman P, Boulay B, Kaplan F.

Eur J Hum Genet. 1997 May-Jun;5(3):129-36.

PMID:
9272736
4.
5.

Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.

Akli S, Chomel JC, Lacorte JM, Bachner L, Kahn A, Poenaru L.

Hum Mol Genet. 1993 Jan;2(1):61-7. Erratum in: Hum Mol Genet 1993 Apr;2(4):496.

PMID:
8490625
6.

Novel Tay-Sachs disease mutations from China.

Akalin N, Shi HP, Vavougios G, Hechtman P, Lo W, Scriver CR, Mahuran D, Kaplan F.

Hum Mutat. 1992;1(1):40-6.

PMID:
1301190
7.

Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.

Triggs-Raine BL, Akerman BR, Clarke JT, Gravel RA.

Am J Hum Genet. 1991 Nov;49(5):1041-54.

8.

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.

Akli S, Chelly J, Mezard C, Gandy S, Kahn A, Poenaru L.

J Biol Chem. 1990 May 5;265(13):7324-30.

9.

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.

Akerman BR, Zielenski J, Triggs-Raine BL, Prence EM, Natowicz MR, Lim-Steele JS, Kaback MM, Mules EH, Thomas GH, Clarke JT, et al.

Hum Mutat. 1992;1(4):303-9.

PMID:
1301938
10.
11.
12.

Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

Drucker L, Hemli JA, Navon R.

Hum Mutat. 1997;10(6):451-7.

PMID:
9401008
13.
15.
16.

A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.

Fernandes M, Kaplan F, Natowicz M, Prence E, Kolodny E, Kaback M, Hechtman P.

Hum Mol Genet. 1992 Dec;1(9):759-61.

PMID:
1302612
17.

Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.

Yamanaka S, Johnson ON, Norflus F, Boles DJ, Proia RL.

Genomics. 1994 Jun;21(3):588-96.

PMID:
7959736
18.

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.

Akli S, Chelly J, Lacorte JM, Poenaru L, Kahn A.

Genomics. 1991 Sep;11(1):124-34.

PMID:
1837283
20.

Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

Triggs-Raine B, Richard M, Wasel N, Prence EM, Natowicz MR.

Am J Hum Genet. 1995 Apr;56(4):870-9.

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