Novel SMARCAL1 Bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient

Journal of Clinical Immunology

Volumn 34, Issue 1, 2014, Pages 76-83

  Simon, Amos J ^a,b   Lev, Atar ^a,b   Jeison, Marta ^c,d   Borochowitz, Zvi U ^e   Korn, David ^a,b   Lerenthal, Yaniv ^a   Somech, Raz ^a,b,d  

^a SHEBA MEDICAL CENTER   (Israel)

^b Edmond and Lily Safra Children's Hospital   (Israel)

^c SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

^e BNAI ZION MEDICAL CENTER   (Israel)

Author keywords

Chromosomal breakage; immunodeficiency; Schimke immuno osseous dysplasia; SCID; SIOD; SMARCAL1

Indexed keywords

ALLELE; ARTICLE; BIRTH WEIGHT; BONE DYSPLASIA; BONE MARROW BIOPSY; CASE REPORT; CELL CYCLE; CELL SURVIVAL; CHILD; CHROMOSOMAL INSTABILITY; CHROMOSOME 14Q; CHROMOSOME 15; CHROMOSOME 8; CHROMOSOME ABERRATION; CHROMOSOME BREAKAGE; CHROMOSOME FRAGILITY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA REPAIR; DNA STRAND BREAKAGE; FACE DYSMORPHIA; FEMALE; FIBROBLAST; GENE; GENE FREQUENCY; GENE MUTATION; GESTATIONAL AGE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; KARYOTYPE; LYMPHOCYTE COUNT; LYMPHOCYTOPENIA; NEPHROTIC SYNDROME; NEUROLOGIC DISEASE; PERIPHERAL BLOOD MONONUCLEAR CELL; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHIMKE IMMUNO OSSEOUS DYSPLASIA; SHORT STATURE; SMALL FOR DATE INFANT; SMARCAL1 GENE; SPONDYLOEPIPHYSEAL DYSPLASIA; STOP CODON; T LYMPHOCYTE; TELOMERE;

ALLELES; ARTERIOSCLEROSIS; CELL SURVIVAL; CHILD, PRESCHOOL; CHROMOSOMAL INSTABILITY; CHROMOSOME BANDING; CHROMOSOME BREAKAGE; DNA HELICASES; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOPHENOTYPING; INFANT; LYMPHOCYTES; MALE; MUTATION; NEPHROTIC SYNDROME; OPEN READING FRAMES; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; PULMONARY EMBOLISM; RNA SPLICE SITES;

EID: 84896704609     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-013-9957-3     Document Type: Article

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