Works matching IS 10597794 AND DT 2003 AND VI 21 AND IP 2
Results: 16
Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.
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- Human Mutation, 2003, v. 21, n. 2, p. 112, doi. 10.1002/humu.10159
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- Article
Missense mutations in the DNA-binding region and termination codon in PAX6.
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- Human Mutation, 2003, v. 21, n. 2, p. 138, doi. 10.1002/humu.10163
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Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients.
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- Human Mutation, 2003, v. 21, n. 2, p. 172, doi. 10.1002/humu.9112
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Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.
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- Human Mutation, 2003, v. 21, n. 2, p. 170, doi. 10.1002/humu.9109
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- Article
Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study.
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- Human Mutation, 2003, v. 21, n. 2, p. 158, doi. 10.1002/humu.10166
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- Article
Mutations in the CACNA1F and NYX genes in British CSNBX families.
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- Human Mutation, 2003, v. 21, n. 2, p. 169, doi. 10.1002/humu.9106
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NF1 gene analysis based on DHPLC.
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- Human Mutation, 2003, v. 21, n. 2, p. 171, doi. 10.1002/humu.9111
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Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.
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- Human Mutation, 2003, v. 21, n. 2, p. 170, doi. 10.1002/humu.9108
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- Article
High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method.
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- Human Mutation, 2003, v. 21, n. 2, p. 116, doi. 10.1002/humu.10161
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- Article
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis.
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- Human Mutation, 2003, v. 21, n. 2, p. 151, doi. 10.1002/humu.10165
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Comprehensive scanning of the ATM gene with DOVAM-S.
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- Human Mutation, 2003, v. 21, n. 2, p. 123, doi. 10.1002/humu.10158
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- Article
BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer.
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- Human Mutation, 2003, v. 21, n. 2, p. 171, doi. 10.1002/humu.9110
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- Article
Phenotypic cellular characterization of an Ataxia telangiectasia patient carrying a causal homozygous missense mutation.
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- Human Mutation, 2003, v. 21, n. 2, p. 169, doi. 10.1002/humu.9107
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- Article
Rapid detection of exon 1 NRAS gene mutations using universal heteroduplex generator technology.
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- Human Mutation, 2003, v. 21, n. 2, p. 132, doi. 10.1002/humu.10160
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- Article
The Iranian Human Mutation Gene Bank: A data and sample resource for worldwide collaborative genetics research.
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- Human Mutation, 2003, v. 21, n. 2, p. 146, doi. 10.1002/humu.10164
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Clinical and molecular study in congenital muscular dystrophy with partial laminin α2 (LAMA2) deficiency.
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- Human Mutation, 2003, v. 21, n. 2, p. 103, doi. 10.1002/humu.10157
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- Article