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6<sup>th</sup> International HUGO Mutation Database Meeting, March 27, 1999, Brisbane, Australia.
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- Human Mutation, 1999, v. 14, n. 3, p. 183, doi. 10.1002/(SICI)1098-1004(1999)14:3<183::AID-HUMU1>3.0.CO;2-P
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Protein misfolding and degradation in genetic diseases.
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- Human Mutation, 1999, v. 14, n. 3, p. 186, doi. 10.1002/(SICI)1098-1004(1999)14:3<186::AID-HUMU2>3.0.CO;2-J
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Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5.
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- Human Mutation, 1999, v. 14, n. 3, p. 199, doi. 10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.0.CO;2-A
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TP53 mutation and haplotype analysis of two large African American families.
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- Human Mutation, 1999, v. 14, n. 3, p. 216, doi. 10.1002/(SICI)1098-1004(1999)14:3<216::AID-HUMU4>3.0.CO;2-X
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Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.
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- Human Mutation, 1999, v. 14, n. 3, p. 222, doi. 10.1002/(SICI)1098-1004(1999)14:3<222::AID-HUMU5>3.0.CO;2-V
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Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.
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- Human Mutation, 1999, v. 14, n. 3, p. 233, doi. 10.1002/(SICI)1098-1004(1999)14:3<233::AID-HUMU6>3.0.CO;2-O
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Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype-phenotype correlation studies in spanish metachromatic leukodystrophy patients.
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- Human Mutation, 1999, v. 14, n. 3, p. 240, doi. 10.1002/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO;2-L
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E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer.
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- Human Mutation, 1999, v. 14, n. 3, p. 249, doi. 10.1002/(SICI)1098-1004(1999)14:3<249::AID-HUMU8>3.0.CO;2-9
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Molecular basis of late-life globoid cell leukodystrophy.
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- Human Mutation, 1999, v. 14, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1999)14:3<256::AID-HUMU9>3.0.CO;2-6
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Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method.
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- Human Mutation, 1999, v. 14, n. 3, p. 263, doi. 10.1002/(SICI)1098-1004(1999)14:3<263::AID-HUMU10>3.0.CO;2-X
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Deep intronic mutations are rarely a cause of hemophilia B.
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- Human Mutation, 1999, v. 14, n. 3, p. 267, doi. 10.1002/(SICI)1098-1004(1999)14:3<267::AID-HUMU11>3.0.CO;2-I
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Novel genetic polymorphisms in DNA repair genes: O<sup>6</sup>-methylguanine-DNA methyltransferase ( MGMT) and N-methylpurine-DNA glycosylase ( MPG) in lung cancer patients from Poland.
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- Human Mutation, 1999, v. 14, n. 3, p. 269, doi. 10.1002/(SICI)1098-1004(1999)14:3<269::AID-HUMU13>3.0.CO;2-6
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A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia.
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- Human Mutation, 1999, v. 14, n. 3, p. 269, doi. 10.1002/(SICI)1098-1004(1999)14:3<269::AID-HUMU12>3.0.CO;2-9
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A novel frameshift mutation (1651ins5) in exon 10 of the CFTR gene can be misinterpreted as a ΔF508 mutation.
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- Human Mutation, 1999, v. 14, n. 3, p. 271, doi. 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU15>3.0.CO;2-N
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Racial differences in the frequencies of cardiac β<sub>1</sub>-adrenergic receptor polymorphisms: Analysis of c145A>G and c1165G>C.
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- Human Mutation, 1999, v. 14, n. 3, p. 271, doi. 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU14>3.0.CO;2-Q
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A novel missense mutation Ile193Val in cholesteryl ester transfer protein gene.
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- Human Mutation, 1999, v. 14, n. 3, p. 271, doi. 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU16>3.0.CO;2-K
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A novel missense mutation Thr316Ala in lysosomal acid lipase gene in Japanese population.
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- Human Mutation, 1999, v. 14, n. 3, p. 271, doi. 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU17>3.0.CO;2-H
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Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia.
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- Human Mutation, 1999, v. 14, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU21>3.0.CO;2-V
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A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy.
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- Human Mutation, 1999, v. 14, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU18>3.0.CO;2-B
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Mutation profile in the β-myosin heavy chain gene in hypertensive hypertrophic heart disease.
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- Human Mutation, 1999, v. 14, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU20>3.0.CO;2-Y
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Identification of the new polymorphism IVS1-91 C→T in the beta globin gene.
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- Human Mutation, 1999, v. 14, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU19>3.0.CO;2-8
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