Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered

Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered

10.1371/journal.pone.0048864

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Bibliographic Details
Main Authors:	McDonald K.K., Stajich J., Blach C., Ashley-Koch A.E., Hauser M.A.
Other Authors:	DUKE-NUS MEDICAL SCHOOL
Published:	2019
Subjects:	creatine kinase desmin adolescent article autosomal dominant inheritance child clinical article desmin gene exome exome sequencing filamin C gene gene gene mutation genetic variability genotype phenotype correlation human intron limb girdle muscular dystrophy muscle weakness mutational analysis nonhuman pedigree analysis school child sequence analysis Adolescent Adult Child Contractile Proteins Desmin Exome Exons Female Genotype Humans Male Microfilament Proteins Middle Aged Muscular Dystrophies, Limb-Girdle Mutation Pedigree Phenotype Sequence Analysis, DNA
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/161706
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Institution:	National University of Singapore

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