Works matching IS 10597794 AND DT 1998 AND VI 12 AND IP 1
Results: 20
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
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- Human Mutation, 1998, v. 12, n. 1, p. 59, doi. 10.1002/(SICI)1098-1004(1998)12:1<59::AID-HUMU9>3.0.CO;2-A
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Deletion analysis of Bulgarian SMA families.
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- Human Mutation, 1998, v. 12, n. 1, p. 33, doi. 10.1002/(SICI)1098-1004(1998)12:1<33::AID-HUMU5>3.0.CO;2-Y
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A frequent mutation in the acidic proline-rich protein gene, PRH2, causing a Q147K change closely adjacent to the bacterial binding domain of the cognate salivary PRP (Pr1′) in Afro-Americans.
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- Human Mutation, 1998, v. 12, n. 1, p. 72, doi. 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU18>3.0.CO;2-W
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Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability.
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- Human Mutation, 1998, v. 12, n. 1, p. 73, doi. 10.1002/(SICI)1098-1004(1998)12:1<73::AID-HUMU20>3.0.CO;2-F
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Zhang C, Liu VWS, Addessi CL, Sheffield DA, Linnane AW, Nagley P (1997) Differential occurrence of mutation in mitochondrial DNA of human skeletal muscle during aging. Hum Mutat 11:360-371.
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- Human Mutation, 1998, v. 12, n. 1, p. 69, doi. 10.1002/(SICI)1098-1004(1998)12:1<69::AID-HUMU10>3.0.CO;2-#
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Proof of 'disease causing' mutation.
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- Human Mutation, 1998, v. 12, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M
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Variable penetrance of familial pheochromocytoma associated with the von Hippel Lindau gene mutation, S68W.
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- Human Mutation, 1998, v. 12, n. 1, p. 71, doi. 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU14>3.0.CO;2-A
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Two novel mutations (10410 T→G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation.
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- Human Mutation, 1998, v. 12, n. 1, p. 70, doi. 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G
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Molecular diagnosis of McArdle disease: Revised genomic structure of the myophosphorylase gene and identification of a novel mutation.
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- Human Mutation, 1998, v. 12, n. 1, p. 27, doi. 10.1002/(SICI)1098-1004(1998)12:1<27::AID-HUMU4>3.0.CO;2-#
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Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome.
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- Human Mutation, 1998, v. 12, n. 1, p. 72, doi. 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU17>3.0.CO;2-Z
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Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness.
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- Human Mutation, 1998, v. 12, n. 1, p. 52, doi. 10.1002/(SICI)1098-1004(1998)12:1<52::AID-HUMU8>3.0.CO;2-K
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Novel germline p16<sup>INK4</sup> allele (Asp145Cys) in a family with multiple pancreatic carcinomas.
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- Human Mutation, 1998, v. 12, n. 1, p. 70, doi. 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU12>3.0.CO;2-J
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Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
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- Human Mutation, 1998, v. 12, n. 1, p. 19, doi. 10.1002/(SICI)1098-1004(1998)12:1<19::AID-HUMU3>3.0.CO;2-3
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Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes.
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- Human Mutation, 1998, v. 12, n. 1, p. 71, doi. 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU16>3.0.CO;2-4
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Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.
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- Human Mutation, 1998, v. 12, n. 1, p. 44, doi. 10.1002/(SICI)1098-1004(1998)12:1<44::AID-HUMU7>3.0.CO;2-O
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Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish familes affected with autosomal dominant retinal degenerations.
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- Human Mutation, 1998, v. 12, n. 1, p. 70, doi. 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU11>3.0.CO;2-M
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Pooled analysis of p53 mutations in hematological malignancies.
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- Human Mutation, 1998, v. 12, n. 1, p. 4, doi. 10.1002/(SICI)1098-1004(1998)12:1<4::AID-HUMU2>3.0.CO;2-G
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New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy.
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- Human Mutation, 1998, v. 12, n. 1, p. 71, doi. 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU15>3.0.CO;2-7
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Mutations of the cationic trypsinogen in hereditary pancreatitis.
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- Human Mutation, 1998, v. 12, n. 1, p. 39, doi. 10.1002/(SICI)1098-1004(1998)12:1<39::AID-HUMU6>3.0.CO;2-P
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A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G→T).
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- Human Mutation, 1998, v. 12, n. 1, p. 72, doi. 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU19>3.0.CO;2-T
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