Mutations in POMT1 are found in a minority of patients with walker-warburg syndrome

American Journal of Medical Genetics

Volumn 133 A, Issue 1, 2005, Pages 53-57

  Currier, Sophie C ^a   Lee, Christine K ^a   Chang, Bernard S ^a   Bodell, Adria L ^a   Pai, G Shashidhar ^b   Job, Leela ^c   Lagae, Lieven G ^d   Al Gazali, Lihadh I ^e   Eyaid, Wafaa M ^f   Enns, Greg ^g   Dobyns, William B ^h   Walsh, Christopher A ^a,i  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^c LOMA LINDA UNIVERSITY   (United States)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^f KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^g LUCILE PACKARD CHILDREN S HOSPITAL   (United States)

^h UNIVERSITY OF CHICAGO   (United States)

ⁱ BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

Author keywords

CMD; Dystroglycan; Fukuyama congenital muscular dystrophy; Lissencephaly; Mannosylation; Muscle eye brain; Neuronal migration; POMT1; Walker Warburg syndrome

Indexed keywords

MANNOSYLTRANSFERASE;

ARTICLE; CONSANGUINITY; CONTROLLED STUDY; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; HUMAN CELL; INCIDENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WALKER WARBURG SYNDROME;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 9; CONSANGUINITY; DNA; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; FEMALE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MANNOSYLTRANSFERASES; MICROSATELLITE REPEATS; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME;

EID: 19944433864     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30487     Document Type: Article

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