Found: 17
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A germline mutation in the Von Hippel-Lindau disease gene (L178Q) detected by denaturing gradient gel electrophoresis in a large Jewish-Yemenite family.
- Published in:
- Human Mutation, 1999, v. 14, n. 5, p. 448, doi. 10.1002/(SICI)1098-1004(199911)14:5<448::AID-HUMU16>3.0.CO;2-N
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Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case.
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- Human Mutation, 1999, v. 14, n. 5, p. 447, doi. 10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU12>3.0.CO;2-1
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Jagged-1 mutation analysis in Italian Alagille syndrome patients.
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- Human Mutation, 1999, v. 14, n. 5, p. 394, doi. 10.1002/(SICI)1098-1004(199911)14:5<394::AID-HUMU5>3.0.CO;2-1
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Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.
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- Human Mutation, 1999, v. 14, n. 5, p. 428, doi. 10.1002/(SICI)1098-1004(199911)14:5<428::AID-HUMU9>3.0.CO;2-5
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Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects.
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- Human Mutation, 1999, v. 14, n. 5, p. 359, doi. 10.1002/(SICI)1098-1004(199911)14:5<359::AID-HUMU1>3.0.CO;2-K
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Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions.
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- Human Mutation, 1999, v. 14, n. 5, p. 387, doi. 10.1002/(SICI)1098-1004(199911)14:5<387::AID-HUMU4>3.0.CO;2-4
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A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis.
- Published in:
- Human Mutation, 1999, v. 14, n. 5, p. 448, doi. 10.1002/(SICI)1098-1004(199911)14:5<448::AID-HUMU15>3.0.CO;2-Q
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Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1.
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- Human Mutation, 1999, v. 14, n. 5, p. 440, doi. 10.1002/(SICI)1098-1004(199911)14:5<440::AID-HUMU11>3.0.CO;2-P
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Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.
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- Human Mutation, 1999, v. 14, n. 5, p. 377, doi. 10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A
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Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
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- Human Mutation, 1999, v. 14, n. 5, p. 423, doi. 10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D
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DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: Two novel mutations.
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- Human Mutation, 1999, v. 14, n. 5, p. 433, doi. 10.1002/(SICI)1098-1004(199911)14:5<433::AID-HUMU10>3.0.CO;2-K
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Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
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- Human Mutation, 1999, v. 14, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K
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A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree.
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- Human Mutation, 1999, v. 14, n. 5, p. 448, doi. 10.1002/(SICI)1098-1004(199911)14:5<448::AID-HUMU14>3.0.CO;2-T
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Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita.
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- Human Mutation, 1999, v. 14, n. 5, p. 447, doi. 10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU13>3.0.CO;2-Z
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Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins].
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- Human Mutation, 1999, v. 14, n. 5, p. 449, doi. 10.1002/(SICI)1098-1004(199911)14:5<449::AID-HUMU17>3.0.CO;2-H
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Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of Renal-Coloboma syndrome.
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- Human Mutation, 1999, v. 14, n. 5, p. 369, doi. 10.1002/(SICI)1098-1004(199911)14:5<369::AID-HUMU2>3.0.CO;2-E
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Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.
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- Human Mutation, 1999, v. 14, n. 5, p. 401, doi. 10.1002/(SICI)1098-1004(199911)14:5<401::AID-HUMU6>3.0.CO;2-R
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