Is there a Mendelian transmission ratio distortion of the c.429 -452dup(24bp) polyalanine tract ARX mutation?

European Journal of Human Genetics

Volumn 20, Issue 12, 2012, Pages 1311-1314

  Shoubridge, Cheryl ^a,b   Gardner, Alison ^a   Schwartz, Charles E ^c   Hackett, Anna ^d   Field, Michael ^d   Gecz, Jozef ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c GREENWOOD GENETIC CENTER   (United States)

^d Genetics of Learning Disability Service of New South Wales   (Australia)

Author keywords

ARX; intellectual disability; meiotic drive; Mendelian transmission; polyalanine tract expansions

Indexed keywords

ALANINE; POLYALANINE; UNCLASSIFIED DRUG;

ARISTALESS RELATED HOMEOBOX GENE; ARTICLE; FEMALE; GENE DUPLICATION; GENE MUTATION; GENE SEGREGATION; GENETIC COUNSELING; HOMEOBOX; HUMAN; MALE; MEIOSIS; MENDELIAN RANDOMIZATION ANALYSIS; OOCYTE; PRIORITY JOURNAL; SEGREGATION DISTORTION;

ALANINE; FEMALE; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; INHERITANCE PATTERNS; MALE; MEIOSIS; MUTATION; OOCYTES; PEDIGREE; REPETITIVE SEQUENCES, NUCLEIC ACID; TRANSCRIPTION FACTORS;

EID: 84869236891     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.61     Document Type: Article

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