Works matching IS 10597794 AND DT 1997 AND VI 10 AND IP 3
Results: 17
Human APRT deficiency: Indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.
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- Human Mutation, 1997, v. 10, n. 3, p. 251, doi. 10.1002/(SICI)1098-1004(1997)10:3<251::AID-HUMU15>3.0.CO;2-Z
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Hereditary coproporphyria: Exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene.
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- Human Mutation, 1997, v. 10, n. 3, p. 196, doi. 10.1002/(SICI)1098-1004(1997)10:3<196::AID-HUMU3>3.0.CO;2-H
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Novel point mutations in the dystrophin gene.
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- Human Mutation, 1997, v. 10, n. 3, p. 217, doi. 10.1002/(SICI)1098-1004(1997)10:3<217::AID-HUMU7>3.0.CO;2-F
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Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT.
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- Human Mutation, 1997, v. 10, n. 3, p. 236, doi. 10.1002/(SICI)1098-1004(1997)10:3<236::AID-HUMU10>3.0.CO;2-0
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Six novel mutations in the neurofibromatosis type 1 (NF1) gene.
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- Human Mutation, 1997, v. 10, n. 3, p. 248, doi. 10.1002/(SICI)1098-1004(1997)10:3<248::AID-HUMU14>3.0.CO;2-#
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E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles.
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- Human Mutation, 1997, v. 10, n. 3, p. 186, doi. 10.1002/(SICI)1098-1004(1997)10:3<186::AID-HUMU2>3.0.CO;2-H
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Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.
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- Human Mutation, 1997, v. 10, n. 3, p. 212, doi. 10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K
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G6PD Sumaré: A novel mutation in the G6PD gene (1292 T→G) associated with chronic nonspherocytic anemia.
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- Human Mutation, 1997, v. 10, n. 3, p. 245, doi. 10.1002/(SICI)1098-1004(1997)10:3<245::AID-HUMU13>3.0.CO;2-#
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A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.
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- Human Mutation, 1997, v. 10, n. 3, p. 179, doi. 10.1002/(SICI)1098-1004(1997)10:3<179::AID-HUMU1>3.0.CO;2-E
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Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: A novel mutation in exon 3.
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- Human Mutation, 1997, v. 10, n. 3, p. 258, doi. 10.1002/(SICI)1098-1004(1997)10:3<258::AID-HUMU17>3.0.CO;2-Z
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The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation.
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- Human Mutation, 1997, v. 10, n. 3, p. 207, doi. 10.1002/(SICI)1098-1004(1997)10:3<207::AID-HUMU5>3.0.CO;2-F
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A novel mutation (L174R) in the Ca<sup>2+</sup>-sensing receptor gene associated with familial hypocalciuric hypercalcemia.
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- Human Mutation, 1997, v. 10, n. 3, p. 233, doi. 10.1002/(SICI)1098-1004(1997)10:3<233::AID-HUMU9>3.0.CO;2-J
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Hereditary nonpolyposis colorectal cancer (HNPCC): Eight novel germline mutations in hMSH2 or hMLH1 genes.
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- Human Mutation, 1997, v. 10, n. 3, p. 241, doi. 10.1002/(SICI)1098-1004(1997)10:3<241::AID-HUMU12>3.0.CO;2-#
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Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence.
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- Human Mutation, 1997, v. 10, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1997)10:3<256::AID-HUMU16>3.0.CO;2-Z
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Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene-specific isoforms.
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- Human Mutation, 1997, v. 10, n. 3, p. 201, doi. 10.1002/(SICI)1098-1004(1997)10:3<201::AID-HUMU4>3.0.CO;2-L
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Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.
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- Human Mutation, 1997, v. 10, n. 3, p. 223, doi. 10.1002/(SICI)1098-1004(1997)10:3<223::AID-HUMU8>3.0.CO;2-J
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Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patients.
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- Human Mutation, 1997, v. 10, n. 3, p. 239, doi. 10.1002/(SICI)1098-1004(1997)10:3<239::AID-HUMU11>3.0.CO;2-0
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