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Human mutation

Showing results (861-870 of 6,545) with videos related to

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Human Mutation|January 1, 1996
An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variantsL G Jensen, H K Jensen, H Nissen, et al.
Human Mutation|January 1, 1995
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implicationsH S Scott, S Bunge, A Gal, et al.
Human Mutation|January 1, 1995
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutationsM D Brown, A Torroni, C L Reckord, et al.
Human Mutation|January 1, 1995
Molecular genetics of the glycophorin gene family, the antigens for MNSs blood groups: multiple gene rearrangements and modulation of splice site usage result in extensive diversificationO O Blumenfeld, C H Huang
Human Mutation|January 1, 1995
Mutations Ivs4nt1, 47delCT, and G148S identified in the phenylalanine hydroxylase gene by RT-PCR of illegitimate transcripts and chemical cleavage of mismatchS J Ramus, R G Cotton
Human Mutation|January 1, 1995
Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patientsR Koike, O Onodera, H Tabe, et al.
Human Mutation|January 1, 1995
A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiencyF Takakubo, D R Thorburn, R M Brown, et al.
Human Mutation|January 1, 1996
Pelizaeus-Merzbacher disease: a novel mutation in the 5'-untranslated region of the proteolipid protein geneC Kawanishi, N Sugiyama, H Osaka, et al.
Human Mutation|January 1, 1996
Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndromeD Isbrandt, J J Hopwood, K von Figura, et al.
Human Mutation|January 1, 1996
Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patientsT Bienvenu, L Chertkoff, C Beldjord, et al.
Pageof 655

Showing results (861-870 of 6,545) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1996
An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variantsL G Jensen, H K Jensen, H Nissen, et al.
Human Mutation|January 1, 1995
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implicationsH S Scott, S Bunge, A Gal, et al.
Human Mutation|January 1, 1995
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutationsM D Brown, A Torroni, C L Reckord, et al.
Human Mutation|January 1, 1995
Molecular genetics of the glycophorin gene family, the antigens for MNSs blood groups: multiple gene rearrangements and modulation of splice site usage result in extensive diversificationO O Blumenfeld, C H Huang
Human Mutation|January 1, 1995
Mutations Ivs4nt1, 47delCT, and G148S identified in the phenylalanine hydroxylase gene by RT-PCR of illegitimate transcripts and chemical cleavage of mismatchS J Ramus, R G Cotton
Human Mutation|January 1, 1995
Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patientsR Koike, O Onodera, H Tabe, et al.
Human Mutation|January 1, 1995
A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiencyF Takakubo, D R Thorburn, R M Brown, et al.
Human Mutation|January 1, 1996
Pelizaeus-Merzbacher disease: a novel mutation in the 5'-untranslated region of the proteolipid protein geneC Kawanishi, N Sugiyama, H Osaka, et al.
Human Mutation|January 1, 1996
Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndromeD Isbrandt, J J Hopwood, K von Figura, et al.
Human Mutation|January 1, 1996
Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patientsT Bienvenu, L Chertkoff, C Beldjord, et al.
Pageof 655