Works matching IS 10597794 AND DT 1997 AND VI 9 AND IP 1
Results: 23
Mutations of the androgen receptor gene in patients with complete androgen insensitivity.
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- Human Mutation, 1997, v. 9, n. 1, p. 57, doi. 10.1002/(SICI)1098-1004(1997)9:1<57::AID-HUMU10>3.0.CO;2-O
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Probable identity by descent and discovery of familial relationships by means of a rare β-thalassemia haplotype.
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- Human Mutation, 1997, v. 9, n. 1, p. 86, doi. 10.1002/(SICI)1098-1004(1997)9:1<86::AID-HUMU20>3.0.CO;2-K
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Phenylketonuria in Spanish Gypsies: Prevalence of the IVS10nt546 mutation on haplotype 34.
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- Human Mutation, 1997, v. 9, n. 1, p. 66, doi. 10.1002/(SICI)1098-1004(1997)9:1<66::AID-HUMU13>3.0.CO;2-N
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Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis.
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- Human Mutation, 1997, v. 9, n. 1, p. 83, doi. 10.1002/(SICI)1098-1004(1997)9:1<83::AID-HUMU19>3.0.CO;2-L
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Mutation analysis of the connexin 32 (Cx32) gene in charcot-marie-tooth neuropathy type 1: Identification of five new mutations.
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- Human Mutation, 1997, v. 9, n. 1, p. 47, doi. 10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO;2-M
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Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.
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- Human Mutation, 1997, v. 9, n. 1, p. 7, doi. 10.1002/(SICI)1098-1004(1997)9:1<7::AID-HUMU2>3.0.CO;2-8
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Three novel mutations in the coproporphyrinogen oxidase gene.
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- Human Mutation, 1997, v. 9, n. 1, p. 78, doi. 10.1002/(SICI)1098-1004(1997)9:1<78::AID-HUMU17>3.0.CO;2-M
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A nonsense mutation due to a single base insertion in the 3′-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.
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- Human Mutation, 1997, v. 9, n. 1, p. 37, doi. 10.1002/(SICI)1098-1004(1997)9:1<37::AID-HUMU6>3.0.CO;2-M
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A novel splice site mutation (156 + 1G→A) in the TSC2 gene.
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- Human Mutation, 1997, v. 9, n. 1, p. 64, doi. 10.1002/(SICI)1098-1004(1997)9:1<64::AID-HUMU12>3.0.CO;2-N
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CTG trinucleotide repeat lengths in myotonic dystrophy alleles of patients with senile cataracts.
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- Human Mutation, 1997, v. 9, n. 1, p. 95, doi. 10.1002/(SICI)1098-1004(1997)9:1<95::AID-HUMU23>3.0.CO;2-J
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Mutations in mut methylmalonic acidemia: Clinical and enzymatic correlations.
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- Human Mutation, 1997, v. 9, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(1997)9:1<1::AID-HUMU1>3.0.CO;2-E
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Novel mutation of the myelin P0 gene in a CMT1B family.
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- Human Mutation, 1997, v. 9, n. 1, p. 74, doi. 10.1002/(SICI)1098-1004(1997)9:1<74::AID-HUMU16>3.0.CO;2-M
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Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.
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- Human Mutation, 1997, v. 9, n. 1, p. 53, doi. 10.1002/(SICI)1098-1004(1997)9:1<53::AID-HUMU9>3.0.CO;2-Q
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Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects.
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- Human Mutation, 1997, v. 9, n. 1, p. 30, doi. 10.1002/(SICI)1098-1004(1997)9:1<30::AID-HUMU5>3.0.CO;2-T
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A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
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- Human Mutation, 1997, v. 9, n. 1, p. 62, doi. 10.1002/(SICI)1098-1004(1997)9:1<62::AID-HUMU11>3.0.CO;2-N
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New splicing mutation in exon 5-6 of the p53-tumor suppressor gene in a malignant schwannoma.
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- Human Mutation, 1997, v. 9, n. 1, p. 91, doi. 10.1002/(SICI)1098-1004(1997)9:1<91::AID-HUMU22>3.0.CO;2-J
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Novel missense mutation in the coagulation factor IX catalytic domain associated with moderate disease.
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- Human Mutation, 1997, v. 9, n. 1, p. 72, doi. 10.1002/(SICI)1098-1004(1997)9:1<72::AID-HUMU15>3.0.CO;2-M
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Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.
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- Human Mutation, 1997, v. 9, n. 1, p. 23, doi. 10.1002/(SICI)1098-1004(1997)9:1<23::AID-HUMU4>3.0.CO;2-Q
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Phenylketonuria splice mutation (EXON6nt-96Ag) masquerading as missense mutation (Y204C).
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- Human Mutation, 1997, v. 9, n. 1, p. 88, doi. 10.1002/(SICI)1098-1004(1997)9:1<88::AID-HUMU21>3.0.CO;2-K
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A novel missense point mutation ( S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease.
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- Human Mutation, 1997, v. 9, n. 1, p. 69, doi. 10.1002/(SICI)1098-1004(1997)9:1<69::AID-HUMU14>3.0.CO;2-N
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Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype.
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- Human Mutation, 1997, v. 9, n. 1, p. 17, doi. 10.1002/(SICI)1098-1004(1997)9:1<17::AID-HUMU3>3.0.CO;2-M
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Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine β-synthase protein in two French pyridoxine-responsive homocystinuria patients.
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- Human Mutation, 1997, v. 9, n. 1, p. 81, doi. 10.1002/(SICI)1098-1004(1997)9:1<81::AID-HUMU18>3.0.CO;2-L
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Simultaneous genotyping for all three known structural mutations in the human mannose-binding lectin gene.
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- Human Mutation, 1997, v. 9, n. 1, p. 41, doi. 10.1002/(SICI)1098-1004(1997)9:1<41::AID-HUMU7>3.0.CO;2-S
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