(Q24632692)

English

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta

scientific article

Statements

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta (English)
0 references
0 references
0 references
Helena E Christiansen
0 references
Ulrike Schwarze
0 references
Shawna M Pyott
0 references
Abdulrahman AlSwaid
0 references
Shatha Alrasheed
0 references
Melanie G Pepin
0 references
Mary Ann Weis
0 references
David R Eyre
0 references
12 March 2010
0 references
86
0 references
3
0 references
389-98
0 references

Identifiers

 
edit
    edit
      edit
        edit
          edit
            edit
              edit
                edit
                  edit