A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Ali, Bassam R ^a   Silhavy, Jennifer L ^b   Gleeson, Matthew J ^b   Gleeson, Joseph G ^b   Al Gazali, Lihadh ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN VLDLR; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; CEREBELLUM HYPOPLASIA; CHILD; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DYSEQUILIBRIUM SYNDROME; FEMALE; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; HAPLOTYPE; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HUMAN; LOCOMOTION; MACROGYRIA; MENTAL DEFICIENCY; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PROTEIN FUNCTION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; STRABISMUS; WHITE MATTER INJURY;

ADOLESCENT; BRAIN; CEREBELLAR ATAXIA; CHILD; CHILD, PRESCHOOL; FEMALE; HAPLOTYPES; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; LOCOMOTION; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, LDL; SEQUENCE ANALYSIS, DNA;

EID: 84866178329     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-80     Document Type: Article

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