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HUMAN MUTATION (ONLINE)
Rivista
Codice:
E199287
ISSN:
1098-1004
Dati Generali
Dati Generali
Pubblicazioni (8)
Comprehensive mutationanalysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase
Articolo
Identification of Novel Mutations in the SLC25A15 Gene in Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome: A Clinical, Molecular, and Functional Study
Articolo
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti
Articolo
Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online.
Articolo
Select item 10671Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online.
Articolo
The evolution of a Web resource: The Galactosemia Proteins Database 2.0.
Articolo
Two cases of misinterpretation of molecular results in Incontinentia Pigmenti, and a PCR-based method to discriminate NEMO/IKK_amma gene deletion
Articolo
Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.
Articolo
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