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Journal article

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.

Abstract:

A six-generation kindred from Arkansas with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) was investigated by genetic linkage and mutation analysis. SEDT had been mapped on the X-chromosome (Xp22.2), and the clinical and radiographic evolution of this kindred had been published. Linkage analysis proved informative for all five polymorphic markers tested, and DXS987 and DXS16 co-segregated with the Arkansas kindred (peak logarithm of the odds scores, 3.54 and 3.36, respectively)...

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Publication status:
Published

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Publisher copy:
10.1210/jc.85.9.3343

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Journal:
Journal of clinical endocrinology and metabolism
Volume:
85
Issue:
9
Pages:
3343-3347
Publication date:
2000-09-01
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
Source identifiers:
26692

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