Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
about
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutationsA Sox10 expression screen identifies an amino acid essential for Erbb3 function.An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10.HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.Sox proteins in melanocyte development and melanoma.Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia.Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patientSpotlight on spotted mice: a review of white spotting mouse mutants and associated human pigmentation disorders.Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4Hearing loss in Waardenburg syndrome: a systematic review.
P2860
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P2860
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
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2001 nî lūn-bûn
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2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2001年の論文
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2001年論文
@yue
2001年論文
@zh-hant
2001年論文
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2001年論文
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2001年論文
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2001年论文
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name
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
@ast
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
@en
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
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type
label
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
@ast
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
@en
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
@nl
prefLabel
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
@ast
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
@en
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
@nl
P2093
P356
P1476
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
@en
P2093
P356
10.1136/JMG.38.9.E30
P407
P50
P577
2001-09-01T00:00:00Z