Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.

Authors :: Lunati-Rozie A
Janin A
Faubert E
Nony S
Renoux C
Carcao MD
Fanen P
Funalot B
Mansour-Hendili L
Joly P
Source :: British journal of haematology [Br J Haematol] 2023 May; Vol. 201 (4), pp. e46-e49. Date of Electronic Publication: 2023 Mar 16.
Publication Year :: 2023

Subjects :: Humans
Mutation
Ankyrins genetics
Spherocytosis, Hereditary diagnosis
Spherocytosis, Hereditary genetics

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