High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome

Blood

Volumn 86, Issue 10, 1995, Pages 3648-3654

  Wengler, Georg S ^a   Notarangelo, Luigi D ^b   Berardelli, Stefania ^b   Pollonni, Gabriella ^b   Mella, Patrizia ^b   Fasth, Anders ^b   Ugazio, Alberto G ^b   Parolini, Ornella ^b  

^a SPEDALI CIVILI   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BASE PAIRING; CLINICAL ARTICLE; ECZEMA; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MALE; MORTALITY; NONSENSE MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUALITY OF LIFE; RECESSIVE INHERITANCE; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME; X CHROMOSOMAL INHERITANCE; X CHROMOSOME;

EID: 0028850286     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v86.10.3648.bloodjournal86103648     Document Type: Article

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