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Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient.
Simon, Amos J; Lev, Atar; Jeison, Marta; Borochowitz, Zvi U; Korn, David; Lerenthal, Yaniv; Somech, Raz.
Affiliation
  • Simon AJ; Cancer Research Center, Chaim Sheba Medical Center, Tel Hashomer, 52621, Israel, amos.simon@sheba.health.gov.il.
J Clin Immunol ; 34(1): 76-83, 2014 Jan.
Article in En | MEDLINE | ID: mdl-24197801

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Phenotype / Arteriosclerosis / Pulmonary Embolism / DNA Helicases / Chromosome Breakage / Alleles / Immunologic Deficiency Syndromes / Mutation / Nephrotic Syndrome Type of study: Risk_factors_studies Limits: Child, preschool / Female / Humans / Infant / Male Language: En Journal: J Clin Immunol Year: 2014 Document type: Article Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Phenotype / Arteriosclerosis / Pulmonary Embolism / DNA Helicases / Chromosome Breakage / Alleles / Immunologic Deficiency Syndromes / Mutation / Nephrotic Syndrome Type of study: Risk_factors_studies Limits: Child, preschool / Female / Humans / Infant / Male Language: En Journal: J Clin Immunol Year: 2014 Document type: Article Country of publication: