M Villamar López

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We have performed the polymerase chain reaction (PCR) to study 26 patients affected with Duchenne muscular dystrophy as a direct diagnostic method of screening for gene deletions. We have amplified simultaneously 9 sequences which belong to 9 exons located along the two "hot spots" of the gene. We have detected deletions in many of the exons in 11 of the 26(More)
We have analyzed the CPK levels in 44 carriers of DMD women, previously diagnosed by using molecular techniques (from a risk population of 133 women), and compare them with the CPK levels of 138 women of a control population. The results obtained show that values higher than the normal level (> 250 mU/ml) are compatible compatible in 99% of the cases with(More)
Fourteen Spanish families, containing at least one affected child with cystic fibrosis, were typed for restriction fragment length polymorphisms (RFLPs) by proper pJ3.11, pmet H and pmet D. Nine (64.3%) were fully informative for prenatal diagnosis and carrier detection; four (28.5%) were partially informative and prenatal exclusion of an affected fetus(More)
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