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Cytosine to Adenosine Transversion Abnormality
Known as:
Cytosine to Adenosine Mutation
, Cytosine to Adenosine Transversion
A point mutation involving the substitution of Adenosine (a purine base) for Cytosine (a pyrimidine base) in a DNA sequence from eukaryotic or…
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National Institutes of Health
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Adenosine to Cytosine Transversion Abnormality
CYP1A2*1 Allele
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2000
2000
A novel mutation in the pendrin gene associated with Pendred's syndrome
F. Bogazzi
,
F. Raggi
,
+8 authors
L. Bartalena
Clinical Endocrinology
2000
Corpus ID: 40121366
Pendred's syndrome is an autosomal recessive disorder characterized by goitre, sensorineural deafness and iodide organification…
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