A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: 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

Creator: Ali, Bassam R.

Contributor: Silhavy, Jennifer L.
Gleeson, Matthew J.
Gleeson, Joseph G.
Al-Gazali, Lihadh
SpringerLink (Online service)

DOI: 10.1186/1471-2350-13-80

URN: urn:nbn:de:1111-2016071514979

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:53 AM CEST

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Ali, Bassam R.
Silhavy, Jennifer L.
Gleeson, Matthew J.
Gleeson, Joseph G.
Al-Gazali, Lihadh
SpringerLink (Online service)

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A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

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Other Objects (12)

Charakterisierung neuer Missense Mutationen im Lipidtransporter ABCA3

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A missense mutation in Lama3 causes androgen alopecia

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The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

BRCA1 4153delA founder mutation in Russian ovarian cancer patients

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The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

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Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report

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