New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

Journal of Human Genetics

Volumn 60, Issue 6, 2015, Pages 305-312

  Oliveira, Jorge ^a,b   Negrão, Luís ^c   Fineza, Isabel ^c   Taipa, Ricardo ^d   Melo Pires, Manuel ^d   Fortuna, Ana Maria ^a,b   Gonçalves, Ana Rita ^a,b   Froufe, Hugo ^e   Egas, Conceição ^e   Santos, Rosário ^a,b   Sousa, Mário ^b,f  

^a UP   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^d Institute of Biomedical Sciences Abel Salazar   (Portugal)

^e Bioinformatics Unit   (Portugal)

^f Department Alberto Barros   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLCHOLINE; PROTON; CHKB PROTEIN, HUMAN; CHOLINE KINASE; RNA SPLICING;

ADULT; ARTICLE; CASE REPORT; CHILD; CHOLINE KINASE BETA GENE; DISEASE COURSE; EXOME; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; ONSET AGE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SPLICING DEFECT; WHOLE EXOME SEQUENCING; ENZYMOLOGY; GENETIC ASSOCIATION; GENETICS; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; RNA SPLICING; SKELETAL MUSCLE;

ADULT; BASE SEQUENCE; CHOLINE KINASE; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; HUMANS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; RNA SPLICE SITES;

EID: 84932614394     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.20     Document Type: Article

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