Works matching IS 10597794 AND DT 1997 AND VI 9 AND IP 3
Results: 15
Germline versus somatic mutations of the APC gene: Evidence for mechanistic differences.
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- Human Mutation, 1997, v. 9, n. 3, p. 286, doi. 10.1002/(SICI)1098-1004(1997)9:3<286::AID-HUMU14>3.0.CO;2-Z
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Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
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- Human Mutation, 1997, v. 9, n. 3, p. 195, doi. 10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7
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Frequency of RET mutations in long- and short-segment Hirschsprung disease.
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- Human Mutation, 1997, v. 9, n. 3, p. 243, doi. 10.1002/(SICI)1098-1004(1997)9:3<243::AID-HUMU5>3.0.CO;2-8
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Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative β-ketothiolase deficiency.
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- Human Mutation, 1997, v. 9, n. 3, p. 277, doi. 10.1002/(SICI)1098-1004(1997)9:3<277::AID-HUMU11>3.0.CO;2-#
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Screening of 229 family cancer patients for a germline estrogen receptor gene (ESR) base mutation.
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- Human Mutation, 1997, v. 9, n. 3, p. 289, doi. 10.1002/(SICI)1098-1004(1997)9:3<289::AID-HUMU15>3.0.CO;2-Z
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Mutations and DNA diagnoses of classical citrullinemia.
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- Human Mutation, 1997, v. 9, n. 3, p. 250, doi. 10.1002/(SICI)1098-1004(1997)9:3<250::AID-HUMU6>3.0.CO;2-B
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A clinical overview of WT1 gene mutations.
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- Human Mutation, 1997, v. 9, n. 3, p. 209, doi. 10.1002/(SICI)1098-1004(1997)9:3<209::AID-HUMU2>3.0.CO;2-2
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A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation.
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- Human Mutation, 1997, v. 9, n. 3, p. 274, doi. 10.1002/(SICI)1098-1004(1997)9:3<274::AID-HUMU10>3.0.CO;2-#
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Relative frequency of IVS10nt546 mutation in a Portuguese phenylketonuric population.
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- Human Mutation, 1997, v. 9, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1997)9:3<272::AID-HUMU9>3.0.CO;2-9
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G→T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP.
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- Human Mutation, 1997, v. 9, n. 3, p. 282, doi. 10.1002/(SICI)1098-1004(1997)9:3<282::AID-HUMU13>3.0.CO;2-Z
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Metachromatic leukodystrophy: Identification of the first deletion in exon 1 and nine novel point mutations in the arylsulfatase A gene.
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- Human Mutation, 1997, v. 9, n. 3, p. 234, doi. 10.1002/(SICI)1098-1004(1997)9:3<234::AID-HUMU4>3.0.CO;2-7
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Quantitative allele-specific PCR: Demonstration of age-associated accumulation in human tissues of the A→G mutation at nucleotide 3243 in mitochondrial DNA.
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- Human Mutation, 1997, v. 9, n. 3, p. 265, doi. 10.1002/(SICI)1098-1004(1997)9:3<265::AID-HUMU8>3.0.CO;2-6
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Complex trinucleotide repeat polymorphism in the HOX B6 gene.
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- Human Mutation, 1997, v. 9, n. 3, p. 280, doi. 10.1002/(SICI)1098-1004(1997)9:3<280::AID-HUMU12>3.0.CO;2-Z
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Screening and biochemical characterization of transthyretin variants in the Portuguese population.
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- Human Mutation, 1997, v. 9, n. 3, p. 226, doi. 10.1002/(SICI)1098-1004(1997)9:3<226::AID-HUMU3>3.0.CO;2-5
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Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level.
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- Human Mutation, 1997, v. 9, n. 3, p. 260, doi. 10.1002/(SICI)1098-1004(1997)9:3<260::AID-HUMU7>3.0.CO;2-B
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