A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta

Gene

Volumn 545, Issue 2, 2014, Pages 290-292

  Rubinato, Elisa ^a   Morgan, Anna ^b   D'Eustacchio, Angela ^b   Pecile, Vanna ^b   Gortani, Giulia ^b   Gasparini, Paolo ^a,b   Faletra, Flavio ^b  

^a UNIVERSITY OF TRIESTE   (Italy)

^b INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

Author keywords

AR; Homozygous deletion; OI; SNP array; TMEM38B

Indexed keywords

NERIDRONIC ACID;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BMP1 GENE; BONE DEMINERALIZATION; CASE REPORT; CHILD; CONSANGUINITY; CRTAP GENE; FEMALE; FEMUR FRACTURE; FKBP10 GENE; FKBP65 GENE; GENE; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; LEPRE1 GENE; MEDICAL HISTORY; OSTEOGENESIS IMPERFECTA; PPIB GENE; PRIORITY JOURNAL; SCHOOL CHILD; SERPINF1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TIBIA FRACTURE; TMEM38B GENE; WNT1 GENE;

AR; HOMOZYGOUS DELETION; OI; SNP ARRAY; TMEM38B;

CHILD; CHROMOSOMES, HUMAN, PAIR 19; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; ION CHANNELS; OSTEOGENESIS IMPERFECTA; SEQUENCE DELETION;

EID: 84901633705     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2014.05.028     Document Type: Article

References (8)

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