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

10.1371/journal.pone.0048864

Saved in:

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
Tags:	Add Tag No Tags, Be the first to tag this record!
Institution:	National University of Singapore

id	sg-nus-scholar.10635-161706
record_format	dspace
spelling	sg-nus-scholar.10635-1617062021-10-01T10:30:35Z Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered McDonald K.K. Stajich J. Blach C. Ashley-Koch A.E. Hauser M.A. DUKE-NUS MEDICAL SCHOOL 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 10.1371/journal.pone.0048864 PLoS ONE 7 11 e48864 2019-11-07T01:15:46Z 2019-11-07T01:15:46Z 2012 McDonald K.K., Stajich J., Blach C., Ashley-Koch A.E., Hauser M.A. (2012). Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered. PLoS ONE 7 (11) : e48864. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0048864 19326203 https://scholarbank.nus.edu.sg/handle/10635/161706 Unpaywall 20191101
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	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
spellingShingle	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 McDonald K.K. Stajich J. Blach C. Ashley-Koch A.E. Hauser M.A. Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered
description	10.1371/journal.pone.0048864
author2	DUKE-NUS MEDICAL SCHOOL
author_facet	DUKE-NUS MEDICAL SCHOOL McDonald K.K. Stajich J. Blach C. Ashley-Koch A.E. Hauser M.A.
author	McDonald K.K. Stajich J. Blach C. Ashley-Koch A.E. Hauser M.A.
author_sort	McDonald K.K.
title	Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered
title_short	Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered
title_full	Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered
title_fullStr	Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered
title_full_unstemmed	Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered
title_sort	exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered
publishDate	2019
url	https://scholarbank.nus.edu.sg/handle/10635/161706
_version_	1713212736971735040

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

Similar Items