Works matching IS 10597794 AND DT 2000 AND VI 16 AND IP 5
Results: 29
Hierarchical mutation screening protocol for the BRCA1 gene.
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- Human Mutation, 2000, v. 16, n. 5, p. 422, doi. 10.1002/1098-1004(200011)16:5<422::AID-HUMU7>3.0.CO;2-3
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Genetic heterogeneity of glycogen storage disease type Ia in France: A study of 48 patients.
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- Human Mutation, 2000, v. 16, n. 5, p. 444, doi. 10.1002/1098-1004(200011)16:5<444::AID-HUMU10>3.0.CO;2-F
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Identification of a polymorphism (G83S) in the TWIST gene in Taiwanese.
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- Human Mutation, 2000, v. 16, n. 5, p. 448, doi. 10.1002/1098-1004(200011)16:5<448::AID-HUMU21>3.0.CO;2-#
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Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.
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- Human Mutation, 2000, v. 16, n. 5, p. 446, doi. 10.1002/1098-1004(200011)16:5<446::AID-HUMU14>3.0.CO;2-Y
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Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease).
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- Human Mutation, 2000, v. 16, n. 5, p. 449, doi. 10.1002/1098-1004(200011)16:5<449::AID-HUMU25>3.0.CO;2-L
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A novel germline mutation, P48T, in the CDKN2A/p16 gene in a patient with pancreatic carcinoma.
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- Human Mutation, 2000, v. 16, n. 5, p. 447, doi. 10.1002/1098-1004(200011)16:5<447::AID-HUMU18>3.0.CO;2-J
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A novel polymorphism (g722G>A) in exon 2 of the AVPR2 gene.
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- Human Mutation, 2000, v. 16, n. 5, p. 450, doi. 10.1002/1098-1004(200011)16:5<450::AID-HUMU29>3.0.CO;2-Z
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Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).
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- Human Mutation, 2000, v. 16, n. 5, p. 386, doi. 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y
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Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography.
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- Human Mutation, 2000, v. 16, n. 5, p. 417, doi. 10.1002/1098-1004(200011)16:5<417::AID-HUMU6>3.0.CO;2-4
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Wiskott Aldrich Syndrome in an Israeli family: Identification of a novel G40V mutation.
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- Human Mutation, 2000, v. 16, n. 5, p. 448, doi. 10.1002/1098-1004(200011)16:5<448::AID-HUMU20>3.0.CO;2-2
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Pharmacogenetics of catechol-O-methyltransferase: Frequency of low activity allele in a Ghanaian population.
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- Human Mutation, 2000, v. 16, n. 5, p. 445, doi. 10.1002/1098-1004(200011)16:5<445::AID-HUMU13>3.0.CO;2-3
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Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of pseudoxanthoma elasticum patients: Possible sequence correction?
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- Human Mutation, 2000, v. 16, n. 5, p. 449, doi. 10.1002/1098-1004(200011)16:5<449::AID-HUMU24>3.0.CO;2-O
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A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).
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- Human Mutation, 2000, v. 16, n. 5, p. 447, doi. 10.1002/1098-1004(200011)16:5<447::AID-HUMU17>3.0.CO;2-M
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Identification of 6 new polymorphisms, g.11177G>A, g.14622C>T (R49C), g.17540T>C, g.17639T>C, g.30929T>C, g.31074G>A (R454Q), in the human microsomal epoxide hydrolase gene (EPHX1) in a French population.
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- Human Mutation, 2000, v. 16, n. 5, p. 450, doi. 10.1002/1098-1004(200011)16:5<450::AID-HUMU28>3.0.CO;2-1
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Hepatocyte nuclear factor 1 alpha (HNF-1α) mutations in maturity-onset diabetes of the young.
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- Human Mutation, 2000, v. 16, n. 5, p. 377, doi. 10.1002/1098-1004(200011)16:5<377::AID-HUMU1>3.0.CO;2-2
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Jagged1 ( JAG1) mutation detection in an Australian Alagille syndrome population.
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- Human Mutation, 2000, v. 16, n. 5, p. 408, doi. 10.1002/1098-1004(200011)16:5<408::AID-HUMU5>3.0.CO;2-9
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Comparative sequence analysis (CSA): A new sequence-based method for the identification and characterization of mutations in DNA.
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- Human Mutation, 2000, v. 16, n. 5, p. 437, doi. 10.1002/1098-1004(200011)16:5<437::AID-HUMU9>3.0.CO;2-Q
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Six novel MEN1 gene mutations in sporadic parathyroid tumors.
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- Human Mutation, 2000, v. 16, n. 5, p. 445, doi. 10.1002/1098-1004(200011)16:5<445::AID-HUMU12>3.0.CO;2-6
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A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis.
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- Human Mutation, 2000, v. 16, n. 5, p. 449, doi. 10.1002/1098-1004(200011)16:5<449::AID-HUMU23>3.0.CO;2-R
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Transthyretin Ile84Thr is associated with familial amyloid polyneuropathy.
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- Human Mutation, 2000, v. 16, n. 5, p. 447, doi. 10.1002/1098-1004(200011)16:5<447::AID-HUMU16>3.0.CO;2-P
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A novel SSCP variant (c.828G>A) within the M2 domain of the human neuronal nicotinic acetylcholine receptor α4 subunit gene, CHRNA4.
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- Human Mutation, 2000, v. 16, n. 5, p. 450, doi. 10.1002/1098-1004(200011)16:5<450::AID-HUMU27>3.0.CO;2-4
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Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation.
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- Human Mutation, 2000, v. 16, n. 5, p. 401, doi. 10.1002/1098-1004(200011)16:5<401::AID-HUMU4>3.0.CO;2-J
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Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR.
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- Human Mutation, 2000, v. 16, n. 5, p. 431, doi. 10.1002/1098-1004(200011)16:5<431::AID-HUMU8>3.0.CO;2-Z
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Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: Expression of mutated genes.
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- Human Mutation, 2000, v. 16, n. 5, p. 444, doi. 10.1002/1098-1004(200011)16:5<444::AID-HUMU11>3.0.CO;2-C
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Two 3′ polymorphisms in DLX5: g126427delTATC and g126249T→C.
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- Human Mutation, 2000, v. 16, n. 5, p. 448, doi. 10.1002/1098-1004(200011)16:5<448::AID-HUMU22>3.0.CO;2-X
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A new case of alpha-1-antitrypsin frameshift mutation (1123insT) causing severe deficiency and emphysema.
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- Human Mutation, 2000, v. 16, n. 5, p. 447, doi. 10.1002/1098-1004(200011)16:5<447::AID-HUMU15>3.0.CO;2-S
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Identification of a novel mutation C144F in the notch3 gene in an Australian CADASIL pedigree.
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- Human Mutation, 2000, v. 16, n. 5, p. 449, doi. 10.1002/1098-1004(200011)16:5<449::AID-HUMU26>3.0.CO;2-I
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Genetic variants in the promoter (g983G>T) and coding region (A92T) of the human cardiotrophin-1 gene (CTF1) in patients with dilated cardiomyopathy.
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- Human Mutation, 2000, v. 16, n. 5, p. 448, doi. 10.1002/1098-1004(200011)16:5<448::AID-HUMU19>3.0.CO;2-D
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PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.
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- Human Mutation, 2000, v. 16, n. 5, p. 395, doi. 10.1002/1098-1004(200011)16:5<395::AID-HUMU3>3.0.CO;2-T
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