Mutations in the NHEJ component XRCC4 cause primordial dwarfism

American Journal of Human Genetics

Volumn 96, Issue 3, 2015, Pages 412-424

  Murray, Jennie E ^a   Van Der Burg, Mirjam ^b   Ijspeert, Hanna ^b   Carroll, Paula ^a   Wu, Qian ^c   Ochi, Takashi ^c   Leitch, Andrea ^a   Miller, Edward S ^d   Kysela, Boris ^d   Jawad, Alireza ^b   Bottani, Armand ^e   Brancati, Francesco ^f   Cappa, Marco ^g   Cormier Daire, Valerie ^h   Deshpande, Charu ⁱ   Faqeih, Eissa A ^j   Graham, Gail E ^k   Ranza, Emmanuelle ^e   Blundell, Tom L ^c   Jackson, Andrew P ^a   Stewart, Grant S ^d   Bicknell, Louise S ^a   more..

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^e GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^f UNIVERSITY OF CHIETI   (Italy)

^g BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ GUY S HOSPITAL   (United Kingdom)

^j KING FAHAD MEDICAL CITY   (Saudi Arabia)

^k CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN; XRCC4 PROTEIN; DNA BINDING PROTEIN; DNA LIGASE; DNA LIGASE (ATP); XRCC4 PROTEIN, HUMAN;

ALLELE; ARTICLE; BONE MARROW DEPRESSION; CHILD; CLINICAL ARTICLE; DNA END JOINING REPAIR; DWARFISM; GENE; GENE MUTATION; GENETIC IDENTIFICATION; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; IONIZING RADIATION; LIG4 GENE; MALE; MICROCEPHALIC PRIMORDIAL DWARFISM; PANCYTOPENIA; PHENOTYPE; PRIORITY JOURNAL; AMINO ACID SEQUENCE; DOUBLE STRANDED DNA BREAK; EXOME; FACIES; FEMALE; GENETICS; INFANT; METABOLISM; MICROCEPHALY; MOLECULAR GENETICS; MUTATION; PITUITARY DWARFISM; PRESCHOOL CHILD; PROTEIN CONFORMATION; PULSED FIELD GEL ELECTROPHORESIS; SEVERE COMBINED IMMUNODEFICIENCY;

ALLELES; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA BREAKS, DOUBLE-STRANDED; DNA LIGASES; DNA-BINDING PROTEINS; DWARFISM; DWARFISM, PITUITARY; ELECTROPHORESIS, GEL, PULSED-FIELD; EXOME; FACIES; FEMALE; HUMANS; INFANT; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84924267433     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.01.013     Document Type: Article

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