Articles with "lama2 gene" as a keyword



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Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.

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Published in 2021 at "Journal of clinical laboratory analysis"

DOI: 10.1002/jcla.23930

Abstract: BACKGROUND Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is occurred by mutations in LAMA2 gene that encodes the laminin α2 chain (merosin). MDC1A is a predominant subtype of congenital muscular dystrophy. Herein, we identified two missense… read more here.

Keywords: merosin; congenital muscular; muscular dystrophy; lama2 gene ... See more keywords