Works matching IS 10597794 AND DT 2004 AND VI 23 AND IP 5
Results: 27
Genetic characterization of myeloperoxidase deficiency in Italy.
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- Human Mutation, 2004, v. 23, n. 5, p. 496, doi. 10.1002/humu.20027
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The challenge of documenting mutation across the genome: The human genome variation society approach.
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- Human Mutation, 2004, v. 23, n. 5, p. 447, doi. 10.1002/humu.20038
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Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
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- Human Mutation, 2004, v. 23, n. 5, p. 525, doi. 10.1002/humu.9241
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Mutation analysis of the adenomatous polyposis coli ( APC) gene in Danish patients with familial adenomatous polyposis (FAP).
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- Human Mutation, 2004, v. 23, n. 5, p. 522, doi. 10.1002/humu.9234
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Characterization of seven novel mutations in seven patients with GAMT deficiency.
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- Human Mutation, 2004, v. 23, n. 5, p. 524, doi. 10.1002/humu.9238
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Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.
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- Human Mutation, 2004, v. 23, n. 5, p. 513, doi. 10.1002/humu.20022
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An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).
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- Human Mutation, 2004, v. 23, n. 5, p. 477, doi. 10.1002/humu.20026
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PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
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- Human Mutation, 2004, v. 23, n. 5, p. 487, doi. 10.1002/humu.20019
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Detection of Parkin ( PARK2) and DJ1 ( PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients.
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- Human Mutation, 2004, v. 23, n. 5, p. 525, doi. 10.1002/humu.9240
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Novel mutations in the TRIM37 gene in Mulibrey Nanism.
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- Human Mutation, 2004, v. 23, n. 5, p. 522, doi. 10.1002/humu.9233
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First genotype characterization of Argentinean FAP patients: Identification of 14 novel APCmutations.
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- Human Mutation, 2004, v. 23, n. 5, p. 523, doi. 10.1002/humu.9237
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The Swiss-Prot variant page and the ModSNP database: A resource for sequence and structure information on human protein variants.
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- Human Mutation, 2004, v. 23, n. 5, p. 464, doi. 10.1002/humu.20021
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Human vitamin K-dependent GAS6: Gene structure, allelic variation, and association with stroke.
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- Human Mutation, 2004, v. 23, n. 5, p. 506, doi. 10.1002/humu.20025
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- Article
PAP: Detection of ultra rare mutations depends on P<sup>*</sup> oligonucleotides: 'Sleeping Beauties' awakened by the kiss of pyrophosphorolysis.
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- Human Mutation, 2004, v. 23, n. 5, p. 426, doi. 10.1002/humu.20036
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PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
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- Human Mutation, 2004, v. 23, n. 5, p. 453, doi. 10.1002/humu.20029
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MLPA and MAPH: New techniques for detection of gene deletions.
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- Human Mutation, 2004, v. 23, n. 5, p. 413, doi. 10.1002/humu.20035
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Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa.
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- Human Mutation, 2004, v. 23, n. 5, p. 523, doi. 10.1002/humu.9236
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Single-molecule analysis for molecular haplotyping.
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- Human Mutation, 2004, v. 23, n. 5, p. 442, doi. 10.1002/humu.20020
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Approaches for analyzing human mutations and nucleotide sequence variation: A report from the Seventh International Mutation Detection meeting, 2003.
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- Human Mutation, 2004, v. 23, n. 5, p. 401, doi. 10.1002/humu.20031
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PCR-Based detection of minority point mutations.
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- Human Mutation, 2004, v. 23, n. 5, p. 406, doi. 10.1002/humu.20024
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Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.
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- Human Mutation, 2004, v. 23, n. 5, p. 524, doi. 10.1002/humu.9243
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Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.
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- Human Mutation, 2004, v. 23, n. 5, p. 471, doi. 10.1002/humu.20028
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Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.
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- Human Mutation, 2004, v. 23, n. 5, p. 526, doi. 10.1002/humu.9242
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A novel splice-site mutation in the common gamma chain (γc) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK<sup>+</sup> phenotype.
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- Human Mutation, 2004, v. 23, n. 5, p. 522, doi. 10.1002/humu.9235
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OCRLMutation analysis in Italian patients with Lowe syndrome.
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- Human Mutation, 2004, v. 23, n. 5, p. 524, doi. 10.1002/humu.9239
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DNA analysis by MALDI-TOF mass spectrometry.
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- Human Mutation, 2004, v. 23, n. 5, p. 437, doi. 10.1002/humu.20023
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Proofreading genotyping assays and electrochemical detection of SNPs.
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- Human Mutation, 2004, v. 23, n. 5, p. 420, doi. 10.1002/humu.20034
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