Prenatal genetic diagnosis in cystic fibrosis by ARMS-PCR method and STR genotyping
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چکیده
منابع مشابه
Prenatal Genetic Diagnosis by Arms - Pcr Method in Couples of Cftr Mutations Carriers
Mucoviscidosis is the most common genetic autosomal recessive disease in Caucasian populations, with an incidence of 1/2200 – 2500 live birth and a carrier frequency of 1 in 25 – 30 persons. The disease is caused by mutations of the CFTR gene (cystic fibrosis transductance conductance regulator), which is located on chromosome 7 in locus q31.2. The CFTR gene is a large gene (250 kpb) with 27 ex...
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Correspondence to: Zoran L. Popa, e-mail: [email protected], Clinic of Obstetrics and Gynecology III, Victor Babes University of Medicine and Pharmacy Timisoara, Romania SUMMARY: Mucoviscidosis is the most common genetic autosomal recessive disease in Caucasian populations, a potentially lethal disease and therefore prenatal genetic diagnosis is essential for couples with increased risk of h...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2008
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(08)60046-6