Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Boyden, Steven E ^a,b   Duncan, Anna R ^a   Estrella, Elicia A ^a   Lidov, Hart G W ^a,b   Mahoney, Lane J ^a   Katz, Jonathan S ^c   Kunkel, Louis M ^a,b   Kang, Peter B ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c CALIFORNIA PACIFIC MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; N ACETYLMANNOSAMINE KINASE; PROTEIN; PROTEIN KINASE; UNCLASSIFIED DRUG; MULTIENZYME COMPLEX; UDP N ACETYLGLUCOSAMINE 2 EPIMERASE N ACETYLMANNOSAMINE KINASE; UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE - N-ACETYLMANNOSAMINE KINASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BASOPHIL; CELL VACUOLE; CLINICAL ARTICLE; CONTROLLED STUDY; DONOR SITE; EXON; FAMILY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HEREDITARY INCLUSION BODY MYOPATHY TYPE 2; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INTRON; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; PREDICTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; CASE REPORT; GENETIC LINKAGE; GENETICS; GENOMICS; INCLUSION BODY MYOSITIS; LIMB GIRDLE MUSCULAR DYSTROPHY; METABOLISM; METHODOLOGY; MIDDLE AGED; MUSCLE CELL; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; RECESSIVE GENE;

ADULT; AGED; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; GENOMICS; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; MULTIENZYME COMPLEXES; MUSCLE CELLS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; MYOSITIS, INCLUSION BODY; PEDIGREE; RNA SPLICE SITES; VACUOLES;

EID: 79959570089     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-87     Document Type: Article

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