Works matching IS 10597794 AND DT 2000 AND VI 15 AND IP 6
Results: 29
Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1).
- Published in:
- Human Mutation, 2000, v. 15, n. 6, p. 582, doi. 10.1002/1098-1004(200006)15:6<582::AID-HUMU20>3.0.CO;2-B
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Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
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- Human Mutation, 2000, v. 15, n. 6, p. 579, doi. 10.1002/1098-1004(200006)15:6<579::AID-HUMU13>3.0.CO;2-K
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W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa.
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- Human Mutation, 2000, v. 15, n. 6, p. 583, doi. 10.1002/1098-1004(200006)15:6<583::AID-HUMU24>3.0.CO;2-X
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Novel allele containing a 190C>T nonsynonymous substitution in the N-acetyltransferase (NAT2) gene.
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- Human Mutation, 2000, v. 15, n. 6, p. 581, doi. 10.1002/1098-1004(200006)15:6<581::AID-HUMU17>3.0.CO;2-V
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Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome.
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- Human Mutation, 2000, v. 15, n. 6, p. 584, doi. 10.1002/1098-1004(200006)15:6<584::AID-HUMU28>3.0.CO;2-I
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Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.
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- Human Mutation, 2000, v. 15, n. 6, p. 522, doi. 10.1002/1098-1004(200006)15:6<522::AID-HUMU4>3.0.CO;2-Y
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Higher resolution microplate array diagonal gel electrophoresis: Application to a multiallelic minisatellite.
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- Human Mutation, 2000, v. 15, n. 6, p. 565, doi. 10.1002/1098-1004(200006)15:6<565::AID-HUMU8>3.0.CO;2-7
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Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: Lack of FANCA protein.
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- Human Mutation, 2000, v. 15, n. 6, p. 578, doi. 10.1002/1098-1004(200006)15:6<578::AID-HUMU12>3.0.CO;2-Q
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Identification of a polymorphism (D366H) in the endoglin gene in Chinese.
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- Human Mutation, 2000, v. 15, n. 6, p. 583, doi. 10.1002/1098-1004(200006)15:6<583::AID-HUMU23>3.0.CO;2-#
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Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.
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- Human Mutation, 2000, v. 15, n. 6, p. 580, doi. 10.1002/1098-1004(200006)15:6<580::AID-HUMU16>3.0.CO;2-0
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New missense mutation (G626V) in the predicted selectivity filter of the HERG channel associated with familial long QT syndrome.
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- Human Mutation, 2000, v. 15, n. 6, p. 584, doi. 10.1002/1098-1004(200006)15:6<584::AID-HUMU27>3.0.CO;2-L
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Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
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- Human Mutation, 2000, v. 15, n. 6, p. 509, doi. 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#
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A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning.
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- Human Mutation, 2000, v. 15, n. 6, p. 556, doi. 10.1002/1098-1004(200006)15:6<556::AID-HUMU7>3.0.CO;2-C
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Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB ( ERCC3) in Polish population.
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- Human Mutation, 2000, v. 15, n. 6, p. 577, doi. 10.1002/1098-1004(200006)15:6<577::AID-HUMU11>3.0.CO;2-W
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A novel complex mutation in exon 8 of RB1 in a case of isolated bilateral retinoblastoma.
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- Human Mutation, 2000, v. 15, n. 6, p. 583, doi. 10.1002/1098-1004(200006)15:6<583::AID-HUMU22>3.0.CO;2-2
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Novel frameshift mutations in the RP2 gene and polymorphic variants.
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- Human Mutation, 2000, v. 15, n. 6, p. 580, doi. 10.1002/1098-1004(200006)15:6<580::AID-HUMU15>3.0.CO;2-3
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Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa.
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- Human Mutation, 2000, v. 15, n. 6, p. 584, doi. 10.1002/1098-1004(200006)15:6<584::AID-HUMU26>3.0.CO;2-O
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A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia.
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- Human Mutation, 2000, v. 15, n. 6, p. 582, doi. 10.1002/1098-1004(200006)15:6<582::AID-HUMU19>3.0.CO;2-M
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Analysis of CDKN1C in Beckwith Wiedemann Syndrome.
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- Human Mutation, 2000, v. 15, n. 6, p. 497, doi. 10.1002/1098-1004(200006)15:6<497::AID-HUMU2>3.0.CO;2-F
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Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
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- Human Mutation, 2000, v. 15, n. 6, p. 541, doi. 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N
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A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.
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- Human Mutation, 2000, v. 15, n. 6, p. 577, doi. 10.1002/1098-1004(200006)15:6<577::AID-HUMU10>3.0.CO;2-Z
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Human beta defensin 1 gene: Six new variants.
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- Human Mutation, 2000, v. 15, n. 6, p. 582, doi. 10.1002/1098-1004(200006)15:6<582::AID-HUMU21>3.0.CO;2-8
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Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.
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- Human Mutation, 2000, v. 15, n. 6, p. 579, doi. 10.1002/1098-1004(200006)15:6<579::AID-HUMU14>3.0.CO;2-H
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Novel cardiac β-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy.
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- Human Mutation, 2000, v. 15, n. 6, p. 584, doi. 10.1002/1098-1004(200006)15:6<584::AID-HUMU25>3.0.CO;2-R
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Identification of a novel mutation (c279delC) and a polymorphism (c291C>G) in the von Hippel-Lindau gene in Italian patients.
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- Human Mutation, 2000, v. 15, n. 6, p. 582, doi. 10.1002/1098-1004(200006)15:6<582::AID-HUMU18>3.0.CO;2-P
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Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.
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- Human Mutation, 2000, v. 15, n. 6, p. 585, doi. 10.1002/1098-1004(200006)15:6<585::AID-HUMU29>3.0.CO;2-C
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Twenty two novel mutations of the factor VII gene in factor VII deficiency.
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- Human Mutation, 2000, v. 15, n. 6, p. 489, doi. 10.1002/1098-1004(200006)15:6<489::AID-HUMU1>3.0.CO;2-J
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A novel St<sup>a</sup> glycophorin produced via gene conversion of pseudoexon III from glycophorin E to glycophorin A gene.
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- Human Mutation, 2000, v. 15, n. 6, p. 533, doi. 10.1002/1098-1004(200006)15:6<533::AID-HUMU5>3.0.CO;2-R
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Identification of 5 novel mutations in the AGXT gene.
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- Human Mutation, 2000, v. 15, n. 6, p. 577, doi. 10.1002/1098-1004(200006)15:6<577::AID-HUMU9>3.0.CO;2-#
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