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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Calcified tissue international 53 (1993), S. 69-70 
    ISSN: 1432-0827
    Keywords: Malignant osteopetrosis ; c-src ; Fibroblasts ; Protein, kinase activity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Summary Targeted disruption of the c-src gene leads to a severe form of osteopetrosis in mice [2]. As the c-src gene is expressed in all tissues and cells tested, we have analyzed fibroblasts from three individuals with malignant, congenital osteopetrosis for the expression of c-src at the protein level. No differences could be detected in c-src protein and c-src kinase activity levels between fbroblasts from healthy controls and affected individuals. Thus, impairment of c-src function as an etiological factor in human osteopetrosis appears unlikely in the individuals investigated.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 513-515 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Gaucher disease type III (GD) is found at a high frequency in northern Sweden. The contemporary Swedish index families are found in two geographically distinct clusters with the highest world-wide frequency of type III GD. A single T-to-C transition in exon 10 has previously been identified in patients from one of the two isolates and we report there the same mutation in the second isolate. Mutational analysis was combined with a genealogical reconstruction of 19 contemporary index families. Both clusters were traced back to two corresponding pairs of ancestors over a 9–13 generation span. Molecular studies show that the two clusters are compatible with a single founder who arrived in northern Sweden in or before the 16th century.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1573-7330
    Keywords: in vitro fertilization-embryo transfer ; twin pregnancy ; Duchenne muscular dystrophy ; prenatal diagnosis ; confined placental mosaicism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A twin pregnancy following in vitro ferilization-embryo transfer coincidentally at risk for the X-linked recessive Duchenne muscular dystrophy is described. Firsttrimester prenatal diagnosis by transabdominal chorionic villus samplings on the dichorionic placentae and molecular linkage analysis could exclude the disorder in both fetuses. Genetic counseling and prenatal diagnosis were particularly complex due to the twin pregnancy, the need for linkage analysis, and confined placental mosaicism 45,X/46XX in one of the fetuses. All parties should be aware that additional invasive diagnostic procedures in the second trimester might be required. It is proposed that, in similar situations, only one, arguably two, fertilized egg be transferred at a time to facilitate prenatal diagnosis and decision making for these rare couples. This problem, however, may be increasingly overcome by preimplantation diagnosis.
    Type of Medium: Electronic Resource
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