Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2164
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7 ; volume:17 ; number:1 ; day:28 ; month:10 ; year:2016 ; pages:1-9 ; date:12.2016
BMC genomics ; 17, Heft 1 (28.10.2016), 1-9, 12.2016
- Creator
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Leegwater, Peter A.
- Contributor
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Vos-Loohuis, Manon
Ducro, Bart J.
Boegheim, Iris J.
Steenbeek, Frank G. van
Nijman, Isaac J.
Monroe, Glen R.
Bastiaansen, John W. M.
Dibbits, Bert W.
Goor, Leanne H. van de
Hellinga, Ids
Back, Willem
Schurink, Anouk
SpringerLink (Online service)
- DOI
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10.1186/s12864-016-3186-0
- URN
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urn:nbn:de:1111-2016112412571
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:49 AM CEST
Data provider
This object is provided by:
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Leegwater, Peter A.
- Vos-Loohuis, Manon
- Ducro, Bart J.
- Boegheim, Iris J.
- Steenbeek, Frank G. van
- Nijman, Isaac J.
- Monroe, Glen R.
- Bastiaansen, John W. M.
- Dibbits, Bert W.
- Goor, Leanne H. van de
- Hellinga, Ids
- Back, Willem
- Schurink, Anouk
- SpringerLink (Online service)
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Breeding problems in the Friesian horse
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
Whole genome sequencing identified a 16 kilobase deletion on ECA13 associated with distichiasis in Friesian horses
Friesian horses as a possible model for human acquired aortopulmonary fistulation
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MRgene
De novo SCN2A splice site mutation in a boy with Autism spectrum disorder
Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report
Splice-variant specific effects of a CACNA1H mutation associated with writer’s cramp
Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features
Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer
Logging with horses : a handbook for practical forestry work with horses
Breeding problems in the Friesian horse
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
Whole genome sequencing identified a 16 kilobase deletion on ECA13 associated with distichiasis in Friesian horses
Friesian horses as a possible model for human acquired aortopulmonary fistulation
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MRgene
De novo SCN2A splice site mutation in a boy with Autism spectrum disorder
Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report
Splice-variant specific effects of a CACNA1H mutation associated with writer’s cramp
Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features
Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer