Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology

Clinical Genetics

Volumn 81, Issue 6, 2012, Pages 578-583

  Cottrell, C E ^a   Mendell, J ^a,b   Hart Kothari, M ^a   Ell, D ^a   Thrush, D L ^a,b   Astbury, C ^a,b   Pastore, M ^a,b   Gastier Foster, J M ^a,b   Pyatt, R E ^a,b  

^a NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

Heterodisomy; Isodisomy; LGMD; Limb girdle; Non disjunction; SGCB; SNP6.0; UPD

Indexed keywords

ADULT; ALLELE; ARTICLE; CASE REPORT; CHROMOSOME 4; CHROMOSOME 4Q; GENETIC RECOMBINATION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MOLECULAR GENETICS; PRIORITY JOURNAL; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TRISOMY; UNIPARENTAL DISOMY;

ADULT; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; HUMANS; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ARRAY ANALYSIS; SARCOGLYCANS; UNIPARENTAL DISOMY;

EID: 84860581401     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01681.x     Document Type: Article

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