Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.

Geetha, Thenral S; Michealraj, Kulandaimanuvel Antony; Kabra, Madhulika; Kaur, Gurjit; Juyal, Ramesh C; Thelma, B K

Geetha, Thenral S; Michealraj, Kulandaimanuvel Antony; Kabra, Madhulika; Kaur, Gurjit; Juyal, Ramesh C; Thelma, B K.

Affiliation

Geetha TS; Department of Genetics, University of Delhi South Campus, New Delhi, India.

Hum Mutat ; 35(1): 41-4, 2014 Jan.

Article in En | MEDLINE | ID: mdl-24115387

Subject(s)

High-Throughput Nucleotide Sequencing; Mental Retardation, X-Linked/genetics; Microtubule-Associated Proteins/genetics; Microtubule-Associated Proteins/metabolism; Transcription Factors/genetics; Transcription Factors/metabolism; Binding Sites; Chromosomes, Human, X/genetics; Cytoplasm/metabolism; Cytoskeleton/metabolism; Exons; Female; Genetic Variation; HEK293 Cells; Humans; India; Male; Microtubule Proteins/genetics; Mutation, Missense; Nuclear Proteins/genetics; Pedigree; Polymorphism, Single Nucleotide; Ubiquitin-Protein Ligases

Key words

MID2; X-linked intellectual disability; linkage analysis; targeted resequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Mental Retardation, X-Linked / High-Throughput Nucleotide Sequencing / Microtubule-Associated Proteins Type of study: Prognostic_studies Limits: Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: India

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