Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Proceedings of the National Academy of Sciences of the United States of America

Volumn 115, Issue 34, 2018, Pages E8007-E8016

  Bolze, Alexandre ^a,b   Boisson, Bertrand ^a,c   Bosch, Barbara ^a   Antipenko, Alexander ^a   Bouaziz, Matthieu ^c   Sackstein, Paul ^a   Chaker Margot, Malik ^a   Barlogis, Vincent ^d   Briggs, Tracy ^e,f   Colino, Elena ^g   Elmore, Aurora C ^h   Fischer, Alain ^c,i,j   Genel, Ferah ^k   Hewlett, Angela ^l   Jedidi, Maher ^m   Kelecic, Jadranka ⁿ   Krüger, Renate ^o   Ku, Cheng Lung ^p   Kumararatne, Dinakantha ^q   Lefevre Utile, Alain ^r   Loughlin, Sam ^s   Mahlaoui, Nizar ^c,i   Markus, Susanne ^t   Garcia, Juan Miguel ^u   Nizon, Mathilde ^v   Oleastro, Matias ^w   Pac, Malgorzata ^x   Picard, Capucine ^c,y   Pollard, Andrew J ^z   Rodriguez Gallego, Carlos ^aa   Thomas, Caroline ^v   Bernuth, Horst Von ^o,ab,ac   Worth, Austen ^s   Meyts, Isabelle ^ad   Risolino, Maurizio ^ae,af   Selleri, Licia ^ae,af   Puel, Anne ^a,c   Klinge, Sebastian ^a   Abel, Laurent ^a,c   Casanova, Jean Laurent ^a,c,i   more..

^a ROCKEFELLER UNIVERSITY   (United States)

^b Helix   (United States)

^c IMAGINE INSTITUTE   (France)

^d University Hospital of Marseille   (France)

^e ST MARY S HOSPITAL   (United Kingdom)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

^g Insular and Maternal and Child Hospitals   (Spain)

^h NATIONAL GEOGRAPHIC SOCIETY   (United States)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j Centre de Recherche Interdisciplinaire en Biologie   (France)

^k Behcet Uz Children's Hospital   (Turkey)

^l UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^m FARHAT HACHED HOSPITAL   (Tunisia)

ⁿ KBC Zagreb   (Croatia)

^o CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^p CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^q ADDENBROOKE S HOSPITAL   (United Kingdom)

^r HÔPITAL ROBERT DEBRÉ   (France)

^s GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^t Medical Genetics Dr Staber and Kollegen Laboratory   (Germany)

^u HOSPITAL DE CRUCES   (Spain)

^v NANTES UNIVERSITY HOSPITAL   (France)

^w HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^x CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^y ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^z UNIVERSITY OF OXFORD   (United Kingdom)

^aa HOSPITAL UNIVERSITARIO DE CANARIAS   (Spain)

^ab Labor Berlin GmbH   (Germany)

^ac Berlin Brandenburg Center for Regenerative Therapies   (Germany)

^ad UNIVERSITY OF LEUVEN   (Belgium)

^ae UNIVERSITY OF CALIFORNIA   (United States)

^af HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

Incomplete penetrance; Isolated congenital asplenia; Ribosomopathy; RPSA; Spleen

Indexed keywords

MESSENGER RNA; RIBOSOMAL PROTEIN SA; RIBOSOME PROTEIN; UNCLASSIFIED DRUG; UNTRANSLATED RNA; LAMININ RECEPTOR; RPSA PROTEIN, HUMAN;

5' UNTRANSLATED REGION; ARTICLE; ASPLENIA; COHORT ANALYSIS; CONTROLLED STUDY; EXON; FEMALE; FOUNDER EFFECT; GENE MUTATION; GENOME; HAPLOINSUFFICIENCY; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; ISOLATED CONGENITAL ASPLENIA; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEWBORN; PENETRANCE; PRIORITY JOURNAL; RNA SPLICING; RPSA GENE; SANGER SEQUENCING; ABNORMALITIES; BIOSYNTHESIS; GENETICS; IMMUNE DEFICIENCY; METABOLISM; MUTATION; PROTEIN SYNTHESIS; SPLEEN;

5' UNTRANSLATED REGIONS; EXONS; FEMALE; FOUNDER EFFECT; HETEROZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MUTATION; PENETRANCE; PROTEIN BIOSYNTHESIS; RECEPTORS, LAMININ; RIBOSOMAL PROTEINS; RNA SPLICING; SPLEEN;

EID: 85051824997     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1805437115     Document Type: Article

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