A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2350
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
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online resource.
- Erschienen in
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A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion ; volume:13 ; number:1 ; day:14 ; month:9 ; year:2012 ; pages:1-9 ; date:12.2012
BMC medical genetics ; 13, Heft 1 (14.9.2012), 1-9, 12.2012
- Urheber
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Ali, Bassam R.
- Beteiligte Personen und Organisationen
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Silhavy, Jennifer L.
Gleeson, Matthew J.
Gleeson, Joseph G.
Al-Gazali, Lihadh
SpringerLink (Online service)
- DOI
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10.1186/1471-2350-13-80
- URN
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urn:nbn:de:1111-2016071514979
- Rechteinformation
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:53 MESZ
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Beteiligte
- Ali, Bassam R.
- Silhavy, Jennifer L.
- Gleeson, Matthew J.
- Gleeson, Joseph G.
- Al-Gazali, Lihadh
- SpringerLink (Online service)
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Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report
A missense mutation in Lama3 causes androgen alopecia
The Icelandic founder mutation BRCA2 999del5: analysis of expression
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BRCA1 4153delA founder mutation in Russian ovarian cancer patients
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CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome
Charakterisierung neuer Missense Mutationen im Lipidtransporter ABCA3
Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report
A missense mutation in Lama3 causes androgen alopecia
The Icelandic founder mutation BRCA2 999del5: analysis of expression
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