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5<sup>th</sup> International HUGO Mutation Database Meeting, 27<sup>th</sup> October, 1998, Denver, U.S.A.
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- Human Mutation, 1999, v. 13, n. 5, p. 343, doi. 10.1002/(SICI)1098-1004(1999)13:5<343::AID-HUMU1>3.0.CO;2-Y
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Guidelines and recommendations for content, structure, and deployment of mutation databases.
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- Human Mutation, 1999, v. 13, n. 5, p. 344, doi. 10.1002/(SICI)1098-1004(1999)13:5<344::AID-HUMU2>3.0.CO;2-U
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Congenital hyperinsulinism: Molecular basis of a heterogeneous disease.
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- Human Mutation, 1999, v. 13, n. 5, p. 351, doi. 10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R
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Cystathionine β-synthase mutations in homocystinuria.
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- Human Mutation, 1999, v. 13, n. 5, p. 362, doi. 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K
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Two novel mutations of the FMO3 gene in a proband with trimethylaminuria.
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- Human Mutation, 1999, v. 13, n. 5, p. 376, doi. 10.1002/(SICI)1098-1004(1999)13:5<376::AID-HUMU5>3.0.CO;2-A
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Molecular genetic study of Pompe disease in Chinese patients in Taiwan.
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- Human Mutation, 1999, v. 13, n. 5, p. 380, doi. 10.1002/(SICI)1098-1004(1999)13:5<380::AID-HUMU6>3.0.CO;2-A
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Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21.
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- Human Mutation, 1999, v. 13, n. 5, p. 385, doi. 10.1002/(SICI)1098-1004(1999)13:5<385::AID-HUMU7>3.0.CO;2-2
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Detection of the ΔF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology.
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- Human Mutation, 1999, v. 13, n. 5, p. 390, doi. 10.1002/(SICI)1098-1004(1999)13:5<390::AID-HUMU8>3.0.CO;2-1
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Six novel β-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.
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- Human Mutation, 1999, v. 13, n. 5, p. 401, doi. 10.1002/(SICI)1098-1004(1999)13:5<401::AID-HUMU9>3.0.CO;2-N
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Low frequency of oncogenic mutations in the core promoter region of the RB1 gene.
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- Human Mutation, 1999, v. 13, n. 5, p. 410, doi. 10.1002/(SICI)1098-1004(1999)13:5<410::AID-HUMU10>3.0.CO;2-1
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Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo.
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- Human Mutation, 1999, v. 13, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU12>3.0.CO;2-Q
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Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda.
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- Human Mutation, 1999, v. 13, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU11>3.0.CO;2-T
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Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population.
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- Human Mutation, 1999, v. 13, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU13>3.0.CO;2-N
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Screen of 55 Slovenian haemophilia A patients: Identification of 2 novel mutations (S-1R and IVS23+1G→A) and discussion of mutation spectrum.
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- Human Mutation, 1999, v. 13, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU15>3.0.CO;2-E
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A single, large deletion accounts for all the β-globin gene mutations in twenty families from Sabah (North Borneo), Malaysia.
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- Human Mutation, 1999, v. 13, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU14>3.0.CO;2-H
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A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele.
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- Human Mutation, 1999, v. 13, n. 5, p. 414, doi. 10.1002/(SICI)1098-1004(1999)13:5<414::AID-HUMU16>3.0.CO;2-8
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Homozygous mutation 341delG/101X of the glucose-6-phosphatase (G6PC) gene causes glycogen storage disease type Ia (von Gierke disease) in a Chinese patient.
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- Human Mutation, 1999, v. 13, n. 5, p. 414, doi. 10.1002/(SICI)1098-1004(1999)13:5<414::AID-HUMU17>3.0.CO;2-5
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Homozygous state for a new single bp-deletion (g.787delA) in exon 5 of the glucose-6-phosphatase gene in a patient with early onset of glycogen storage disease type 1a.
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- Human Mutation, 1999, v. 13, n. 5, p. 414, doi. 10.1002/(SICI)1098-1004(1999)13:5<414::AID-HUMU18>3.0.CO;2-2
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A novel alpha-1-antitrypsin P362H variant found in a population sample from São Tomé e Príncipe (Gulf of Guinea, West Africa).
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- Human Mutation, 1999, v. 13, n. 5, p. 414, doi. 10.1002/(SICI)1098-1004(1999)13:5<414::AID-HUMU19>3.0.CO;2-#
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Alpha2-HS glycoprotein (fetuin) deficiency in a heterozygote of 4452A>T.
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- Human Mutation, 1999, v. 13, n. 5, p. 415, doi. 10.1002/(SICI)1098-1004(1999)13:5<415::AID-HUMU20>3.0.CO;2-M
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