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Article

Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.

Current eye research - 1 Oct 2012

Singh Ramandeep, Ram Jagat, Kaur Gurjit, Prasad Rajendra

Abstract excerpt

PURPOSE: To establish the incidence and molecular basis of type II galactosemia in Indian infants presenting with congenital cataracts. METHODS: 200 infants with congenital cataracts were screed for galactokinase (GALK) enzyme deficiency. GALK enzyme activity was measured using radioactive galactose-1-(14)C and mutations were studied using polymerase chain reaction (PCR), single strand conformational polymorphism...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22632133
DOI: 10.3109/02713683.2012.688162

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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