A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome
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A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz SyndromeIdentification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfectaThe crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz SyndromeMutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.Rogdi Defines GABAergic Control of a Wake-promoting Dopaminergic Pathway to Sustain Sleep in Drosophila.Kohlschütter-Tönz Syndrome - Report of an additional case.Identification of an elaborate complex mediating postsynaptic inhibition.The Kohlschütter-Tönz syndrome associated gene Rogdi encodes a novel presynaptic protein.SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.
P2860
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P2860
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome
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2012 nî lūn-bûn
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2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2012 թվականի ապրիլին հրատարակված գիտական հոդված
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
@zh-mo
2012年論文
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2012年论文
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name
A nonsense mutation in the hum ...... ses Kohlschutter-Tonz syndrome
@ast
A nonsense mutation in the hum ...... ses Kohlschutter-Tonz syndrome
@en
A nonsense mutation in the hum ...... ses Kohlschutter-Tonz syndrome
@en-gb
A nonsense mutation in the hum ...... ses Kohlschutter-Tonz syndrome
@nl
type
label
A nonsense mutation in the hum ...... ses Kohlschutter-Tonz syndrome
@ast
A nonsense mutation in the hum ...... ses Kohlschutter-Tonz syndrome
@en
A nonsense mutation in the hum ...... ses Kohlschutter-Tonz syndrome
@en-gb
A nonsense mutation in the hum ...... ses Kohlschutter-Tonz syndrome
@nl
prefLabel
A nonsense mutation in the hum ...... ses Kohlschutter-Tonz syndrome
@ast
A nonsense mutation in the hum ...... ses Kohlschutter-Tonz syndrome
@en
A nonsense mutation in the hum ...... ses Kohlschutter-Tonz syndrome
@en-gb
A nonsense mutation in the hum ...... ses Kohlschutter-Tonz syndrome
@nl
P2093
P2860
P921
P1476
A nonsense mutation in the hum ...... ses Kohlschutter-Tonz syndrome
@en
P2093
Barbara Illi
Efrat Dagan
Hanna Mandel
Ishai Shahor
Nivin Hawash-Moustafa
Philippe Duquesnoy
Ruth Gershoni-Baruch
Serge Amselem
Shikma Mordechai
P2860
P304
P356
10.1016/J.AJHG.2012.03.005
P407
P577
2012-04-06T00:00:00Z