Targeted Deep Resequencing Identifies MID2 Mutation for X-Linked Intellectual Disability with Varied Disease Severity in a Large Kindred from India

Human Mutation

Volumn 35, Issue 1, 2014, Pages 41-44

  Geetha, Thenral S ^a   Michealraj, Kulandaimanuvel Antony ^a   Kabra, Madhulika ^b   Kaur, Gurjit ^c   Juyal, Ramesh C ^d   Thelma, B K ^a  

^a UNIVERSITY OF DELHI   (India)

^b ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^c GOVERNMENT MEDICAL COLLEGE AND HOSPITAL   (India)

^d NATIONAL INSTITUTE OF IMMUNOLOGY   (India)

Author keywords

Linkage analysis; MID2; Targeted resequencing; X linked intellectual disability

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; GREEN FLUORESCENT PROTEIN; MUTANT PROTEIN; UBIQUITIN PROTEIN LIGASE E3;

ADULT; ARTICLE; BIOACCUMULATION; CELL STRAIN HEK293; CELLULAR DISTRIBUTION; CONTROLLED STUDY; CYTOPLASM; CYTOSKELETON; DISEASE SEVERITY; EMBRYO; EXON; FEMALE; FRAGILE X MENTAL RETARDATION GENE; FRAGILE X SYNDROME; GENE; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INDIA; INTELLECTUAL IMPAIRMENT; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; MID1 GENE; MID2 GENE; MISSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; SOUTHERN BLOTTING; X LINKED MENTAL RETARDATION;

LINKAGE ANALYSIS; MID2; TARGETED RESEQUENCING; X-LINKED INTELLECTUAL DISABILITY;

BINDING SITES; CHROMOSOMES, HUMAN, X; CYTOPLASM; CYTOSKELETON; EXONS; FEMALE; GENETIC VARIATION; HEK293 CELLS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INDIA; MALE; MENTAL RETARDATION, X-LINKED; MICROTUBULE PROTEINS; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTORS;

EID: 84890800879     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22453     Document Type: Article

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