Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • 2005-2009  (1)
  • 1915-1919  (3)
  • 1
    Electronic Resource
    Electronic Resource
    Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype (2005)
    Oxford, UK : Blackwell Science Ltd
    Haemophilia 11 (2005), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary.  We report the results of genetic analysis on a series of 51 patients attending this Haemophilia Comprehensive Care Centre. The most common cause of severe haemophilia A – the factor VIII intron 22 inversion was detected in eight families and the factor VIII intron 1 inversion in three families. Mutation analysis was carried out on the remaining patients by nucleotide sequencing of genomic DNA after screening with conformation-sensitive gel electrophoresis (CSGE) or denaturing high-performance liquid chromatography (dHPLC). A total of 27 different FVIII non-inversion mutations were detected. Severe haemophilia was associated with 12 null mutations (six nonsense, six frameshift) and four missense mutations. A further 11 different missense mutations were associated with moderate or mild disease. To our knowledge, six null mutations [1950del 4(tttg), 3270–75insA, 4416del 10, 6735–38delA, W1029X, Y1792X] and four missense mutations (E1682K, M1947V, P2048L, P2143L) have not been previously published. Each novel missense mutation occurred at a highly conserved residue, no other candidate mutation was detected on screening the entire coding region of the FVIII gene and they were not detected in a screen of individuals without haemophilia A. The genotype–phenotype correlations of the FVIII mutations detected will be discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2516.2005.01069.x
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Classical Education and Modern Needs (1917)
    [s.l.] : Nature Publishing Group
    Nature 99 (1917), S. 225-225 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] IN his reply to Mr. Livingstone's letter in NATURE of May 10 Mr. Wells makes a point which classical apologists, especially those who have not had experience in teaching boys, seem incapable of grasping. Mr. Livingstone, on his own showing, would seem to have fallen into a like error. For more ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/099225d0
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Teeth of Sea-Otter (1919)
    [s.l.] : Nature Publishing Group
    Nature 103 (1919), S. 446-446 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] IT is commonly stated that the sea-otter (Latax lutris) differs from other carnivora in having only two incisor teeth in the lower jaw. Through the kindness of an old Etonian, Mr. Ernest Edwards, our school museum has become possessed of a fine stuffed head of this animal. I was surprised, ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/103446c0
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    The Promotion of Post-graduate Work and Research (1918)
    [s.l.] : Nature Publishing Group
    Nature 101 (1918), S. 243-244 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] IN the article bearing the well-known initials “W. A. T.” in NATURE of May 9 on the above subject, the writer has quoted from a report of the Academic Council to the Senate of the University of London a summary of reasons for and against the institution of a new doctoral degree. The report ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/101243b0
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...