Unstable expansion of the CAG trinucleotide repeat in MAB21L1: Report of a second pedigree and effect on protein expression

Journal of Medical Genetics

Volumn 36, Issue 1, 1999, Pages 62-64

  Margolis, Russell L ^a,d   Stine, O Colin ^b   Ward, Christopher M ^a   Franz, Mary L ^a   Rosenblatt, Adam ^a   Callahan, Colleen ^a   Sherr, Meeia ^a   Ross, Christopher A ^a   Potter, Nicholas T ^c  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF TENNESSEE MEDICAL CENTER   (United States)

^d Department of Psychiatry ^*  (United States)

Author keywords

Expansion; MAB21L1; Repeat; Trinucleotide

Indexed keywords

PROTEIN; TRINUCLEOTIDE;

ARTICLE; CHROMOSOME 13Q; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; FEMALE; GENE MAPPING; GENOTYPE; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; TRINUCLEOTIDE REPEAT;

BLOTTING, WESTERN; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; GENE EXPRESSION; HOMEODOMAIN PROTEINS; HUMANS; MALE; MOSAICISM; PEDIGREE; PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 0032961813     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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