X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings.

Over 80% of infants with severe combined immunodeficiency (SCID) of unknown genetic etiology are males, yet less than a third of these affected males have a family history of X-linked disease. To help identify new mutations of the X-linked SCID gene and to provide genetic counseling, X chromosome in...

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Dettagli Bibliografici
Pubblicato in:J Clin Invest
Autori principali: Conley, M E, Buckley, R H, Hong, R, Guerra-Hanson, C, Roifman, C M, Brochstein, J A, Pahwa, S, Puck, J M
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 1990
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Research Article
Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296604/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2332505/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114603
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