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1.
Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.
Eur J Hum Genet
; 10(4): 250-8, 2002 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-12032733
2.
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
Am J Hum Genet
; 72(2): 419-28, 2003 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-12491225
3.
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
Am J Hum Genet
; 71(4): 947-51, 2002 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-12161821
4.
Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain.
Am J Med Genet A
; 138(1): 75-8, 2005 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-16097008
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