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Results: 4
MUTATION IN SCHEIE SYNDROME (MPS-IS) - A G-]A TRANSITION CREATES NEW SPLICE SITE IN INTRON 5 OF ONE IDUA ALLELE
Authors: MOSKOWITZ SM TIEU PT NEUFELD EF
Citation: Sm. Moskowitz et al., MUTATION IN SCHEIE SYNDROME (MPS-IS) - A G-]A TRANSITION CREATES NEW SPLICE SITE IN INTRON 5 OF ONE IDUA ALLELE, Human mutation, 2(2), 1993, pp. 141-144
A DELETION INSERTION MUTATION IN THE IDUA GENE IN A LIBYAN JEWISH PATIENT WITH HURLER SYNDROME (MUCOPOLYSACCHARIDOSIS IH)
Authors: MOSKOWITZ SM TIEU PT NEUFELD EF
Citation: Sm. Moskowitz et al., A DELETION INSERTION MUTATION IN THE IDUA GENE IN A LIBYAN JEWISH PATIENT WITH HURLER SYNDROME (MUCOPOLYSACCHARIDOSIS IH), Human mutation, 2(1), 1993, pp. 71-73
MOLECULAR ANALYSIS OF HURLER-SYNDROME IN DRUZE AND MUSLIM ARAB PATIENTS IN ISRAEL - MULTIPLE ALLELIC MUTATIONS OF THE IDUA GENE IN A SMALL GEOGRAPHIC AREA
Authors: BACH G MOSKOWITZ SM TIEU PT MATYNIA A NEUFELD EF
Citation: G. Bach et al., MOLECULAR ANALYSIS OF HURLER-SYNDROME IN DRUZE AND MUSLIM ARAB PATIENTS IN ISRAEL - MULTIPLE ALLELIC MUTATIONS OF THE IDUA GENE IN A SMALL GEOGRAPHIC AREA, American journal of human genetics, 53(2), 1993, pp. 330-338
CLONING AND CHARACTERIZATION OF CDNA-ENCODING CANINE ALPHA-L-IDURONIDASE - MESSENGER-RNA DEFICIENCY IN MUCOPOLYSACCHARIDOSIS-I DOG
Authors: STOLTZFUS LJ SOSAPINEDA B MOSKOWITZ SM MENON KP DLOTT B HOOPER L TEPLOW DB SHULL RM NEUFELD EF
Citation: Lj. Stoltzfus et al., CLONING AND CHARACTERIZATION OF CDNA-ENCODING CANINE ALPHA-L-IDURONIDASE - MESSENGER-RNA DEFICIENCY IN MUCOPOLYSACCHARIDOSIS-I DOG, The Journal of biological chemistry, 267(10), 1992, pp. 6570-6575
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