A 5-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a 6-generation Arkansas kindred.
Egile Nagusiak: | Mumm, S, Christie, P, Finnegan, P, Jones, J, Dixon, P, Pannett, A, Harding, B, Gottesman, G, Thakker, R, Whyte, M |
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Formatua: | Journal article |
Argitaratua: |
2000
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Antzeko izenburuak
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A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.
nork: Mumm, S, et al.
Argitaratua: (2000) -
Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
nork: Mumm, S, et al.
Argitaratua: (1997) -
Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
nork: Mumm, S, et al.
Argitaratua: (1997) -
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.
nork: Christie, P, et al.
Argitaratua: (2001) -
Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
nork: Lei Kong, et al.
Argitaratua: (2018-01-01)