Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

American Journal of Human Genetics

Volumn 88, Issue 3, 2011, Pages 362-371

  Becker, Jutta ^a   Semler, Oliver ^a   Gilissen, Christian ^b   Li, Yun ^a   Bolz, Hanno Jörn ^a,c   Giunta, Cecilia ^d   Bergmann, Carsten ^c,e   Rohrbach, Marianne ^d   Koerber, Friederike ^a   Zimmermann, Katharina ^a   De Vries, Petra ^b   Wirth, Brunhilde ^a   Schoenau, Eckhard ^a   Wollnik, Bernd ^a   Veltman, Joris A ^b   Hoischen, Alexander ^b   Netzer, Christian ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Center for Human Genetics   (Germany)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; PIGMENT EPITHELIUM DERIVED FACTOR;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 17P; COMPRESSION FRACTURE; CONSANGUINITY; DISEASE SEVERITY; EXOME; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HOMEOSTASIS; HOMOZYGOSITY; HUMAN; HUMAN GENOME; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; PROTEIN PROCESSING; SERPINF1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST;

ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; MUTATION; NERVE GROWTH FACTORS; OSTEOGENESIS IMPERFECTA; SERPINS;

EID: 79952489518     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.01.015     Document Type: Article

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