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H28+C insertion in the CYP21 gene: A novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency
(Endocrine SocChevy ChaseEUA, 2001)
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
(2018)
Premature termination codon (PTC)-bearing transcripts are often degraded by nonsense-mediated decay (NMD) resulting in loss-of-function (LoF) alleles. However, not all PTCs result in LoF mutations, i.e., some such transcripts ...
New frameshift mutation in the 5 alpha-reductase type 2 gene in a Brazilian patient with 5 alpha-reductase deficiency
(Wiley-lissNew YorkEUA, 1999)
Canine POMC deletion (p187fs) allele frequency in labrador retrievers in BrazilFrequência de alelos mutados (P187fs) no POMC de cães Labrador Retriever no Brasil
(2019-01-01)
The Labrador Retriever is among the main breeds with the greatest predisposition to obesity. Several factors, especially the interrelationships between food management, exercise and social factors; influence the likelihood ...
Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]
(Taylor & Francis, 2013-06)
We describe a novel frameshift mutation on the HBA1 gene (c.187delG), causative of α-thalassemia (α-thal) in a Black Cuban family with multiple sequence variants in the HBA genes and the Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: ...
A frameshift at codons 77/78 (-C): A novel ?-thalassemia mutation
(2004)
We identified and characterized a novel ?-thalassemia (?-thal) mutation due to a deletion of cytosine at codons 77/78 (-C) [CAC(His) CA- or CTG(Leu)?-TG] found in a heterozygous state in four members of a Mexican family. ...