Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Annals of Neurology

Volumn 47, Issue 5, 2000, Pages 670-679

  Amir, Ruthie E ^a   Van Den Veyver, Ignatia B ^a   Schultz, Rebecca ^a   Malicki, Denise M ^a   Tran, Charles Q ^a   Dahle, E J ^a   Philippi, Anne ^a   Timar, László ^b   Percy, Alan K ^c   Motil, Kathleen J ^a   Lichtarge, Olivier ^a   Smith, E O'Brian ^a   Glaze, Daniel G ^a   Zoghbi, Huda Y ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b National Public Health Center   (Hungary)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HOMOVANILLIC ACID;

ARTICLE; GENE FUNCTION; GENE LOSS; GENE MUTATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FAILURE; RETT SYNDROME; SCOLIOSIS; X CHROMOSOME INACTIVATION;

DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; DOSAGE COMPENSATION, GENETIC; ELECTROPHYSIOLOGY; GENE EXPRESSION; HUMANS; INFANT; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POINT MUTATION; RETT SYNDROME; SEVERITY OF ILLNESS INDEX; X CHROMOSOME;

EID: 17444440488     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200005)47:5<670::AID-ANA20>3.0.CO;2-F     Document Type: Article

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