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Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutationsArch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.Coffin-Lowry syndrome: clinical and molecular features.Coffin-Lowry syndrome.Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndromeUpdate on 13 Syndromes Affecting Craniofacial and Dental Structures.
P2860
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P2860
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年学术文章
@wuu
1988年学术文章
@zh
1988年学术文章
@zh-cn
1988年学术文章
@zh-hans
1988年学术文章
@zh-my
1988年学术文章
@zh-sg
1988年學術文章
@yue
1988年學術文章
@zh-hant
name
Coffin-Lowry syndrome: a multicenter study.
@en
Coffin-Lowry syndrome: a multicenter study.
@nl
type
label
Coffin-Lowry syndrome: a multicenter study.
@en
Coffin-Lowry syndrome: a multicenter study.
@nl
prefLabel
Coffin-Lowry syndrome: a multicenter study.
@en
Coffin-Lowry syndrome: a multicenter study.
@nl
P2093
P1433
P1476
Coffin-Lowry syndrome: a multicenter study.
@en
P2093
Couillault G
Gilgenkrantz S
Nivelon JL
Nivelon-Chevallier A
Schweitzer F
P304
P577
1988-10-01T00:00:00Z