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, fragile site, folic acid type, rare, fra(12)(q13.1)
National Institutes of Health
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Human chromosome fragility.
Biochimica et biophysica acta
Corpus ID: 19612490
Fragile sites are heritable specific chromosome loci that exhibit an increased frequency of gaps, poor staining, constrictions or…
CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.
American journal of human genetics
Corpus ID: 33864709
A high level of cytogenetic expression of the rare folate-sensitive fragile site FRA12A is significantly associated with mental…
Bullous ichthyosiform erythroderma, developmental delay, aortic and pulmonary stenosis in association with a FRA12A.
K. W. Teik
Corpus ID: 21327035
We present an 11-year-old female with bullous ichthyosiform erythroderma (BIE), learning disability, patent ductus arteriosus and…
Expression of three rare fragile sites: chromosomal truncation, amplification of distal segment and telomeric renewal
Corpus ID: 800060
Abstract. Fluorescence in situ hybridization with a telomeric probe was used to monitor telomeric renewal following breakage…
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