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Human mutation

Showing results (561-570 of 6,543) with videos related to

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Human Mutation|January 1, 1997
A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher diseaseC Kawanishi, H Osaka, K Owa, et al.
Human Mutation|January 1, 1996
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degenerationT J Keen, C F Inglehearn
Human Mutation|January 1, 1996
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiencyP Maceratesi, F Sangiuolo, G Novelli, et al.
Human Mutation|January 1, 1996
A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathyS Gupta, T Benstead, P Neumann, et al.
Human Mutation|January 1, 1996
A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman diseaseJ Fujiyama, H Sakuraba, M Kuriyama, et al.
Human Mutation|January 1, 1996
Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemiaH Wiebusch, H Funke, T Bruin, et al.
Human Mutation|January 1, 1996
A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)G Van Camp, E Fransen, L Vits, et al.
Human Mutation|January 1, 1996
A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemiaH Wiebusch, H Funke, R Santer, et al.
Human Mutation|January 1, 1996
A novel nonsense mutation, S466Xa in exon 10 of the cystic fibrosis transmembrane conductance regulator geneH Mittre, M Barre, P Leymarie
Human Mutation|January 1, 1996
A novel mutation in the BRCA1 gene in a German early-onset breast cancer familyB Waindzoch, K Grade, B Jandrig, et al.
Pageof 655

Showing results (561-570 of 6,543) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1997
A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher diseaseC Kawanishi, H Osaka, K Owa, et al.
Human Mutation|January 1, 1996
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degenerationT J Keen, C F Inglehearn
Human Mutation|January 1, 1996
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiencyP Maceratesi, F Sangiuolo, G Novelli, et al.
Human Mutation|January 1, 1996
A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathyS Gupta, T Benstead, P Neumann, et al.
Human Mutation|January 1, 1996
A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman diseaseJ Fujiyama, H Sakuraba, M Kuriyama, et al.
Human Mutation|January 1, 1996
Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemiaH Wiebusch, H Funke, T Bruin, et al.
Human Mutation|January 1, 1996
A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)G Van Camp, E Fransen, L Vits, et al.
Human Mutation|January 1, 1996
A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemiaH Wiebusch, H Funke, R Santer, et al.
Human Mutation|January 1, 1996
A novel nonsense mutation, S466Xa in exon 10 of the cystic fibrosis transmembrane conductance regulator geneH Mittre, M Barre, P Leymarie
Human Mutation|January 1, 1996
A novel mutation in the BRCA1 gene in a German early-onset breast cancer familyB Waindzoch, K Grade, B Jandrig, et al.
Pageof 655