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Human mutation

Showing results (1051-1060 of 6,552) with videos related to

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Human Mutation|January 11, 2000
Novel variants in 3 kb of 5'UTR of the beta 1-adrenergic receptor gene (-93C>T, -210C>T, and -2146T>C): -2146C homozygotes present in patients with idiopathic dilated cardiomyopathy and coronary heart diseaseK Wenzel, S B Felix, D Bauer, et al.
Human Mutation|January 11, 2000
A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collectiveJ Berger, T Korosec, G Unterrainer, et al.
Human Mutation|March 25, 1999
Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defectsM G Mutch, W G Dilley, F Sanjurjo, et al.
Human Mutation|March 25, 1999
Mutant transcripts of the LDL receptor gene: mRNA structure and quantityO K Rødningen, S Tonstad, O D Saugstad, et al.
Human Mutation|March 25, 1999
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequenceS Marie, H Cuppens, M Heuterspreute, et al.
Human Mutation|March 25, 1999
A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansionI Panagopoulos, C Lassen, U Kristoffersson, et al.
Human Mutation|March 25, 1999
Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. OnlineK Claes, E Machackova, M De Vos, et al.
Human Mutation|March 1, 2000
Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family. Mutations in brief no. 158. OnlineD R Booth, J D Gillmore, M R Persey, et al.
Human Mutation|March 1, 2000
Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. OnlineI Gluck, M Zeigler, R Bargal, et al.
Human Mutation|March 1, 2000
A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. OnlineU Grau, H G Klein, C Detter, et al.
Pageof 656

Showing results (1051-1060 of 6,552) with videos related to

Sort By:
Pageof 656
Human Mutation|January 11, 2000
Novel variants in 3 kb of 5'UTR of the beta 1-adrenergic receptor gene (-93C>T, -210C>T, and -2146T>C): -2146C homozygotes present in patients with idiopathic dilated cardiomyopathy and coronary heart diseaseK Wenzel, S B Felix, D Bauer, et al.
Human Mutation|January 11, 2000
A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collectiveJ Berger, T Korosec, G Unterrainer, et al.
Human Mutation|March 25, 1999
Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defectsM G Mutch, W G Dilley, F Sanjurjo, et al.
Human Mutation|March 25, 1999
Mutant transcripts of the LDL receptor gene: mRNA structure and quantityO K Rødningen, S Tonstad, O D Saugstad, et al.
Human Mutation|March 25, 1999
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequenceS Marie, H Cuppens, M Heuterspreute, et al.
Human Mutation|March 25, 1999
A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansionI Panagopoulos, C Lassen, U Kristoffersson, et al.
Human Mutation|March 25, 1999
Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. OnlineK Claes, E Machackova, M De Vos, et al.
Human Mutation|March 1, 2000
Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family. Mutations in brief no. 158. OnlineD R Booth, J D Gillmore, M R Persey, et al.
Human Mutation|March 1, 2000
Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. OnlineI Gluck, M Zeigler, R Bargal, et al.
Human Mutation|March 1, 2000
A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. OnlineU Grau, H G Klein, C Detter, et al.
Pageof 656