Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

Neurogenetics

Volumn 11, Issue 4, 2010, Pages 449-455

  Boyden, Steven E ^a,b   Salih, Mustafa A ^c   Duncan, Anna R ^a   White, Alexander J ^a   Estrella, Elicia A ^a   Burgess, Stephanie L ^a   Seidahmed, Mohammed Z ^d   Al Jarallah, Abdullah S ^e   Alkhalidi, Hisham M S ^e   Al Maneea, Waleed M ^d   Bennett, Richard R ^a   Alshemmari, Salem H ^f   Kunkel, Louis M ^a,b   Kang, Peter B ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d SECURITY FORCES HOSPITAL   (Saudi Arabia)

^e KING SAUD UNIVERSITY   (Saudi Arabia)

^f KUWAIT UNIVERSITY   (Kuwait)

Author keywords

Consanguineous; Homozygosity mapping; Limb girdle muscular dystrophy; Linkage analysis; Mutations; Saudi Arabian

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LINKAGE ANALYSIS; MALE; MYOPATHY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FAMILY HEALTH; FEMALE; GENETIC LINKAGE; GENOTYPE; HOMOZYGOTE; HUMANS; INFANT; LOD SCORE; MALE; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PEDIGREE; SAUDI ARABIA;

EID: 78650072232     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-010-0250-9     Document Type: Article

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