Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy.
Mir YR, Agrahari AK, Hassan A, Choudhary A, Asthana S, Taneja AK, Nawaz S, Ilyas M, Scotti C, Kuchay RAH. Mol Biol Rep. 2023 Dec 28; 51(1):30. Epub 2023 Dec 28.