Prenatal diagnosis of the WAS R86H sequence variation in heterozygous twins [8]

Clinical Chemistry

Volumn 52, Issue 5, 2006, Pages 901-903

  Alapi, Krisztina ^a   Erdos, Melinda ^a   Török, Olga ^a   Maródi, László ^a  

^a UNIVERSITY OF DEBRECEN   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; FEMALE; GENE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; LETTER; MULTIGENE FAMILY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS; SURVIVAL RATE; TWIN PREGNANCY; WAS GENE; WISKOTT ALDRICH SYNDROME;

CHILD, PRESCHOOL; FEMALE; HETEROZYGOTE; HUMANS; MALE; PREGNANCY; PRENATAL DIAGNOSIS; TWINS; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

EID: 33646346870     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.064816     Document Type: Letter

References (6)

1. Snapper SB, Rosen FS. A family of WASPs. N Engl J Med 2003;348:350-1.
2. Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994;78:635-44.
3. Ochs HD, Notarangelo LD. Structure and function of the Wiskott-Aldrich syndrome protein. Curr Opin Hematol 2005;12:284-91.
4. Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, et al. Mutations of the Wiskott-Aldrich syndrome protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 2004;104:4010-9.
5. Weisz B, Rodeck CH. Invasive diagnostic procedures in twin pregnancies. Prenat Diagn 2005; 25:751-8.
6. Evans MI, Goldberg JD, Horenstein J, Wapner RJ, Ayoub MA, Stone J, et al. Selective termination for structural, chromosomal and Mendelian anomalies: international experience. Am J Obstet Gynecol 1999;181:893-7.