Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome.
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Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains.Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findingsEpigenetic modulations in activated cells early after HIV-1 infection and their possible functional consequences.A class of human exons with predicted distant branch points revealed by analysis of AG dinucleotide exclusion zones.Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.
P2860
Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 18 February 2004
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Delineation of the mechanisms ...... lved in Coffin-Lowry syndrome.
@en
Delineation of the mechanisms ...... lved in Coffin-Lowry syndrome.
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type
label
Delineation of the mechanisms ...... lved in Coffin-Lowry syndrome.
@en
Delineation of the mechanisms ...... lved in Coffin-Lowry syndrome.
@nl
prefLabel
Delineation of the mechanisms ...... lved in Coffin-Lowry syndrome.
@en
Delineation of the mechanisms ...... lved in Coffin-Lowry syndrome.
@nl
P2093
P2860
P356
P1476
Delineation of the mechanisms ...... lved in Coffin-Lowry syndrome.
@en
P2093
André Hanauer
James Stévenin
Maria Zeniou
Renata Gattoni
P2860
P304
P356
10.1093/NAR/GKH272
P407
P577
2004-02-18T00:00:00Z