Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome

European Journal of Human Genetics

Volumn 8, Issue 4, 2000, Pages 311-314

  Hamlington, Jeanette D ^a   Clough, Mark V ^a   Dunston, Jennifer A ^a   McIntosh, Iain ^a,b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

Branch point; Exon skipping; LMX1B; Nail patella syndrome; Splice site mutation

Indexed keywords

RNA; TRANSCRIPTION FACTOR;

ARTICLE; CONSENSUS SEQUENCE; CONTROLLED STUDY; EXON; GENE DELETION; HUMAN; HUMAN CELL; NAIL PATELLA SYNDROME; PRIORITY JOURNAL; RNA ANALYSIS;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BASE SEQUENCE; CELLS, CULTURED; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; HOMEODOMAIN PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; NAIL-PATELLA SYNDROME; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 0034043803     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200448     Document Type: Article

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