Genomic screening for β-sarcoglycan gene mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)

Human Molecular Genetics

Volumn 5, Issue 12, 1996, Pages 1953-1961

  Bönnemann, Carsten G ^a,b   Passos Bueno, M Rita ^c   McNally, Elizabeth M ^a   Vainzof, Mariz ^b   Moreira, Eloísa De Sá ^c   Marie, Suely K ^c   Pavanello, Rita C M ^c   Noguchi, Satoru ^d   Ozawa, Eijiro ^d   Zatz, Mayana ^c   Kunkel, Louis M ^a  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCAN DERIVATIVE; GLYCOPROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAZIL; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FAMILIAL DISEASE; FEMALE; GENE STRUCTURE; GENETIC MARKER; GENETIC SCREENING; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; ONSET AGE; OPEN READING FRAME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SEQUENCE; BASE SEQUENCE; CYTOSKELETAL PROTEINS; DYSTROGLYCANS; EXONS; FEMALE; GENOME, HUMAN; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUTATION; POLYMORPHISM, GENETIC;

EID: 10544252688     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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