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Immunoglobulin heavy chain V-D-J gene rearrangement and mutational status in ...
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Evolution of mutational robustness in an RNA virus.
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Reinforcement of a minor alternative splicing event in MYO7A due to a missens...
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The adolescent and adult form of cobalamin C disease: clinical and molecular ...
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Nonsense mediated decay of VWF mRNA subsequent to c.7674-7675insC mutation in...
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Eight previously unidentified mutations found in the OA1 ocular albinism gene.
BACKGROUND: Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the... -
AltTrans: transcript pattern variants annotated for both alternative splicing...
BACKGROUND: The three major mechanisms that regulate transcript formation involve the selection of alternative sites for transcription start (TS), splicing, and... -
EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign v...
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Identification of VPS35 mutations replicated in French families with Parkinso...
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Molecular and functional analysis of two new MTTP gene mutations in an atypic...
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Dual role of Rac in the assembly of NADPH oxidase, tethering to the membrane ...
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First report on the co-inheritance of beta-globin IVS-I-5 (G-->C) thalassemia...
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A quality control program for mutation detection in KIT and PDGFRA in gastroi...
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Divergent effects of the T1174S SCN1A mutation associated with seizures and h...
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Restriction mapping of βS locus among Tunisian sickle-cell patients.
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Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.
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Peptide mimotopes of rabies virus glycoprotein with immunogenic activity.
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Oncogene abnormalities in a series of primary melanomas of the sinonasal trac...
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Toll-like receptor 2 Arg677Trp polymorphism is associated with susceptibility...
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The mutational spectrum of HRAS, KRAS, NRAS and FGFR3 genes in bladder cancer.
International audience
