Works matching IS 10597794 AND DT 2004 AND VI 24 AND IP 4
Results: 16
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
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- Human Mutation, 2004, v. 24, n. 4, p. 321, doi. 10.1002/humu.20089
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A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.
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- Human Mutation, 2004, v. 24, n. 4, p. 350, doi. 10.1002/humu.9276
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Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
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- Human Mutation, 2004, v. 24, n. 4, p. 352, doi. 10.1002/humu.9279
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The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association.
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- Human Mutation, 2004, v. 24, n. 4, p. 296, doi. 10.1002/humu.20083
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Sequence variations of the α-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE.
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- Human Mutation, 2004, v. 24, n. 4, p. 338, doi. 10.1002/humu.20088
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Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.
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- Human Mutation, 2004, v. 24, n. 4, p. 353, doi. 10.1002/humu.9282
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BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.
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- Human Mutation, 2004, v. 24, n. 4, p. 350, doi. 10.1002/humu.9275
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Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.
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- Human Mutation, 2004, v. 24, n. 4, p. 330, doi. 10.1002/humu.20091
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GJB2: The spectrum of deafness-causing allele variants and their phenotype.
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- Human Mutation, 2004, v. 24, n. 4, p. 305, doi. 10.1002/humu.20084
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Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.
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- Human Mutation, 2004, v. 24, n. 4, p. 353, doi. 10.1002/humu.9281
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Erratum: Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
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- Human Mutation, 2004, v. 24, n. 4, p. 350, doi. 10.1002/humu.9274
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Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.
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- Human Mutation, 2004, v. 24, n. 4, p. 351, doi. 10.1002/humu.9278
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- Article
The role of tau ( MAPT) in frontotemporal dementia and related tauopathies.
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- Human Mutation, 2004, v. 24, n. 4, p. 277, doi. 10.1002/humu.20086
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- Article
Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
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- Human Mutation, 2004, v. 24, n. 4, p. 351, doi. 10.1002/humu.9277
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- Article
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
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- Human Mutation, 2004, v. 24, n. 4, p. 312, doi. 10.1002/humu.20085
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- Article
The cystathionine β-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B<sub>6</sub> nonresponsiveness and a common ancestral haplotype.
- Published in:
- Human Mutation, 2004, v. 24, n. 4, p. 352, doi. 10.1002/humu.9280
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- Article