Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL).
Hum Genet
; 96(4): 407-10, 1995 Oct.
Article
en En
| MEDLINE
| ID: mdl-7557961
ABSTRACT
Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive disorder characterized in affected males by short stature resulting from a growth defect of the vertebral bodies. We have extended our earlier studies by analyzing 15 families with newly identified microsatellite DNA markers; analysis of recombination events with these markers indicates that the gene responsible for SEDL is located in Xp22 between DXS 16 and DXS 987 on an interval spanning approximately 2 Mb.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Osteocondrodisplasias
/
Cromosoma X
/
Mapeo Cromosómico
/
Ligamiento Genético
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Hum Genet
Año:
1995
Tipo del documento:
Article
País de afiliación:
Francia