Congenital myasthenic syndrome of Brahman cattle

P.N. Thompson

Research output: Thesispromoter, other

Abstract

This thesis tells the story of the discovery of a ¿new¿ disease in cattle, from its initial recognition and description of the first clinical case, through the elucidation of the molecular basis of the disease, the development of a screening test, investigation of the epidemiology of the disease and its impact in the population, to the evaluation of options for its control or eradication. More than 250 inherited defects have been described in cattle, of which the majority are inherited in an autosomal recessive manner (Nicholas, 2005). However, in only 28 conditions has the causative mutation has been described at the DNA level. In contrast, several thousand Mendelian diseases have been described in humans, and in almost 400 of these the mutation has been described at the DNA level (OMIM, 2006). However, with the recent advances in genetic methodology, it is expected that the proportion of genetic defects fully characterised will increase rapidly
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • Utrecht University
Supervisors/Advisors
  • Heesterbeek, J.A.P., Promotor, External person
  • van Arendonk, Johan, Promotor
Award date12 Oct 2006
Place of Publication[s.l.]
Publisher
Print ISBNs9780620370813
Publication statusPublished - 2006

Fingerprint

Brahman
mutation
cattle diseases
cattle
genetic disorders
DNA
genetic improvement
screening
methodology

Cite this

Thompson, P. N. (2006). Congenital myasthenic syndrome of Brahman cattle. [s.l.]: S.n.
Thompson, P.N.. / Congenital myasthenic syndrome of Brahman cattle. [s.l.] : S.n., 2006. 131 p.
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author = "P.N. Thompson",
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isbn = "9780620370813",
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Thompson, PN 2006, 'Congenital myasthenic syndrome of Brahman cattle', Doctor of Philosophy, Utrecht University, [s.l.].

Congenital myasthenic syndrome of Brahman cattle. / Thompson, P.N.

[s.l.] : S.n., 2006. 131 p.

Research output: Thesispromoter, other

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T1 - Congenital myasthenic syndrome of Brahman cattle

AU - Thompson, P.N.

PY - 2006

Y1 - 2006

N2 - This thesis tells the story of the discovery of a ¿new¿ disease in cattle, from its initial recognition and description of the first clinical case, through the elucidation of the molecular basis of the disease, the development of a screening test, investigation of the epidemiology of the disease and its impact in the population, to the evaluation of options for its control or eradication. More than 250 inherited defects have been described in cattle, of which the majority are inherited in an autosomal recessive manner (Nicholas, 2005). However, in only 28 conditions has the causative mutation has been described at the DNA level. In contrast, several thousand Mendelian diseases have been described in humans, and in almost 400 of these the mutation has been described at the DNA level (OMIM, 2006). However, with the recent advances in genetic methodology, it is expected that the proportion of genetic defects fully characterised will increase rapidly

AB - This thesis tells the story of the discovery of a ¿new¿ disease in cattle, from its initial recognition and description of the first clinical case, through the elucidation of the molecular basis of the disease, the development of a screening test, investigation of the epidemiology of the disease and its impact in the population, to the evaluation of options for its control or eradication. More than 250 inherited defects have been described in cattle, of which the majority are inherited in an autosomal recessive manner (Nicholas, 2005). However, in only 28 conditions has the causative mutation has been described at the DNA level. In contrast, several thousand Mendelian diseases have been described in humans, and in almost 400 of these the mutation has been described at the DNA level (OMIM, 2006). However, with the recent advances in genetic methodology, it is expected that the proportion of genetic defects fully characterised will increase rapidly

M3 - promoter, other

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Thompson PN. Congenital myasthenic syndrome of Brahman cattle. [s.l.]: S.n., 2006. 131 p.