Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD

C. de Leusse; C. Roman; B. Roquelaure; Alexandre Fabre

doi:10.1016/j.arcped.2022.08.005

Journal Articles Archives de Pédiatrie Year : 2022

Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD

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C. de Leusse

Function : Author

C. Roman

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B. Roquelaure

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Alexandre Fabre

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Marseille medical genetics - Centre de génétique médicale de Marseille

Service de Pédiatrie Multidisciplinaire [Marseille]

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Life Sciences [q-bio] Genetics Life Sciences [q-bio] Human health and pathology Life Sciences [q-bio] Human health and pathology Pediatrics

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Submitted on : Friday, March 17, 2023-3:03:04 PM

Last modification on : Saturday, March 18, 2023-3:38:27 AM

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hal-04034595 , version 1 (17-03-2023)

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HAL Id : hal-04034595 , version 1
DOI : 10.1016/j.arcped.2022.08.005

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C. de Leusse, C. Roman, B. Roquelaure, Alexandre Fabre. Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD. Archives de Pédiatrie, 2022, 29 (8), pp.599-603. ⟨10.1016/j.arcped.2022.08.005⟩. ⟨hal-04034595⟩

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Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD

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