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Article

Functional Characterization of Splice Variants in the Diagnosis of Albinism.

International journal of molecular sciences - 8 Aug 2024

Diallo Modibo, Courdier Cécile, Mercier Elina, Sequeira Angèle, Defay-Stinat Alicia, Plaisant Claudio, Mesdaghi Shahram, Rigden Daniel, Javerzat Sophie, Lasseaux Eulalie, Bourgeade Laetitia, Audebert-Bellanger Séverine, Dollfus Hélène, Hadj-Rabia Smail, Morice-Picard Fanny, Philibert Manon, Sidibé Mohamed Kole, Smirnov Vasily, Sylla Ousmane, Michaud Vincent, Arveiler Benoit

Abstract excerpt

Albinism is a genetically heterogeneous disease in which 21 genes are known so far. Its inheritance mode is autosomal recessive except for one X-linked form. The molecular analysis of exonic sequences of these genes allows for about a 70% diagnostic rate. About half (15%) of the unsolved cases are heterozygous for one pathogenic or probably pathogenic variant. Assuming that the missing variant may be located in...

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PMID: 39201349
DOI: 10.3390/ijms25168657
PMCID: PMC11355033

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