Works matching IS 10597794 AND DT 2001 AND VI 18 AND IP 6
Results: 22
Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.
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- Human Mutation, 2001, v. 18, n. 6, p. 546, doi. 10.1002/humu.1235
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Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.
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- Human Mutation, 2001, v. 18, n. 6, p. 516, doi. 10.1002/humu.1228
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Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
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- Human Mutation, 2001, v. 18, n. 6, p. 548, doi. 10.1002/humu.1239
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A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.
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- Human Mutation, 2001, v. 18, n. 6, p. 535, doi. 10.1002/humu.1230
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Identification and characterization of four novel large deletions in the human neurofibromatosis type 1 ( NF1) gene.
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- Human Mutation, 2001, v. 18, n. 6, p. 549, doi. 10.1002/humu.1241
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In memoriam.
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- Human Mutation, 2001, v. 18, n. 6, p. 461, doi. 10.1002/humu.1223
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Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
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- Human Mutation, 2001, v. 18, n. 6, p. 546, doi. 10.1002/humu.1234
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ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations.
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- Human Mutation, 2001, v. 18, n. 6, p. 499, doi. 10.1002/humu.1227
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Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
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- Human Mutation, 2001, v. 18, n. 6, p. 548, doi. 10.1002/humu.1238
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Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.
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- Human Mutation, 2001, v. 18, n. 6, p. 549, doi. 10.1002/humu.1240
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Absence of deafness-associated connexin-26 ( GJB2) gene mutations in the Omani population.
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- Human Mutation, 2001, v. 18, n. 6, p. 545, doi. 10.1002/humu.1233
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Erratum: A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.
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- Human Mutation, 2001, v. 18, n. 6, p. 552, doi. 10.1002/humu.1244
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Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.
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- Human Mutation, 2001, v. 18, n. 6, p. 488, doi. 10.1002/humu.1226
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Erratum: Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.
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- Human Mutation, 2001, v. 18, n. 6, p. 547, doi. 10.1002/humu.1237
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Novel germline BRCA1 and BRCA2 mutations in breast and breast/ovarian cancer families from the Czech Republic.
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- Human Mutation, 2001, v. 18, n. 6, p. 545, doi. 10.1002/humu.1232
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Novel frameshift mutations in CRX associated with Leber congenital amaurosis.
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- Human Mutation, 2001, v. 18, n. 6, p. 550, doi. 10.1002/humu.1243
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Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
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- Human Mutation, 2001, v. 18, n. 6, p. 472, doi. 10.1002/humu.1225
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Spontaneous and MNNG-induced reversion of an EGFP construct in HeLa cells: An assay for observing mutations in living cells by fluorescent microscopy.
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- Human Mutation, 2001, v. 18, n. 6, p. 526, doi. 10.1002/humu.1229
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Mutation detection 2001: Sixth international symposium on mutations in the human genome, May 3-7, 2001, Bled, Slovenia.
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- Human Mutation, 2001, v. 18, n. 6, p. 542, doi. 10.1002/humu.1231
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Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis.
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- Human Mutation, 2001, v. 18, n. 6, p. 550, doi. 10.1002/humu.1242
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Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): Mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
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- Human Mutation, 2001, v. 18, n. 6, p. 462, doi. 10.1002/humu.1224
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Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
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- Human Mutation, 2001, v. 18, n. 6, p. 547, doi. 10.1002/humu.1236
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- Article