Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family

Journal of Allergy and Clinical Immunology

Volumn 132, Issue 3, 2013, Pages

  Alsina, Laia ^a   González Roca, Eva ^a   Giner, María Teresa ^a   Piquer, Mónica ^a   Puga, Irene ^b   Pascal, Mariona ^a   Ruiz Ortiz, Estibaliz ^a   Badell, Isabel ^c   Martín Mateos, María Anunciación ^a   Cerutti, Andrea ^b   Juan, Manel ^a   Yagüe, Jordi ^a   Plaza, Ana M ^a   Aróstegui, Juan I ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b HOSPITAL DEL MAR   (Spain)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; GERM LINE; HUMAN; LETTER; MOSAICISM; MUTANT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; VERTICAL TRANSMISSION; WILD TYPE; X LINKED SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84883228056     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.03.038     Document Type: Article

References (9)

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