A novel splicing mutation of the ATRX gene in ATR-X syndrome

Brain and Development

Volumn 28, Issue 5, 2006, Pages 322-325

  Wada, Takahito ^a   Sakakibara, Masae ^b   Fukushima, Yoshimitsu ^a   Saitoh, Shinji ^c  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Department of Pediatrics   (Japan)

^c HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

ATR X; Splicing mutation

Indexed keywords

ATR PROTEIN; COMPLEMENTARY DNA; HEMOGLOBIN H;

ADOLESCENT; ADULT; ALPHA THALASSEMIA; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DNA DETERMINATION; DNA FLANKING REGION; DNA STRAND; EXON; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HEMOGLOBIN DETERMINATION; HUMAN; LABORATORY TEST; MALE; PHENOTYPE; PHYSICAL EXAMINATION; PROTEIN DOMAIN; RNA SPLICING; X CHROMOSOME LINKED DISORDER; X LINKED MENTAL RETARDATION;

ADOLESCENT; ADULT; DNA HELICASES; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MUTATION; NUCLEAR PROTEINS; RNA SPLICING;

EID: 33646120809     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2005.09.005     Document Type: Article

References (10)

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