Authors: CORMAND B GRINBERG D GORT L CHABAS A VILAGELIU L

Citation: B. Cormand et al., MOLECULAR ANALYSIS AND CLINICAL FINDINGS IN THE SPANISH GAUCHER-DISEASE POPULATION - PUTATIVE HAPLOTYPE OF THE N370S ANCESTRAL CHROMOSOME, Human mutation, 11(4), 1998, pp. 295-305

Authors: GORT L CHABAS A COLL MJ

Citation: L. Gort et al., ANALYSIS OF 5 MUTATIONS IN 20 MUCOPOLYSACCHARIDOSIS TYPE-I PATIENTS -HIGH PREVALENCE OF THE W402X-MUTATION, Human mutation, 11(4), 1998, pp. 332-332

Authors: GORT L COLL MJ CHABAS A

Citation: L. Gort et al., MUTATIONS IN THE IDURONATE-2-SULFATASE GENE IN 12 SPANISH PATIENTS WITH HUNTER DISEASE, Human mutation, 1998, pp. 66-68

Authors: GORT L CHABAS A COLL MJ

Citation: L. Gort et al., HUNTER-DISEASE IN THE SPANISH POPULATION - MOLECULAR ANALYSIS IN 31 FAMILIES, Journal of inherited metabolic disease, 21(6), 1998, pp. 655-661

Authors: CHABAS A GORT L MONTFORT M CASTELLO F DOMINGUEZ MC GRINBERG D VILAGELIU L

Citation: A. Chabas et al., RECURRENCE OF THE D409H MUTATION IN SPANISH GAUCHER-DISEASE PATIENTS - DESCRIPTION OF A NEW HOMOZYGOUS PATIENT AND HAPLOTYPE ANALYSIS, Journal of Medical Genetics, 35(9), 1998, pp. 775-777

Authors: CORMAND B GRINBERG D GORT L FIUMARA A BARONE R VILAGELIU L CHABAS A

Citation: B. Cormand et al., 2 NEW MILD HOMOZYGOUS MUTATIONS IN GAUCHER-DISEASE PATIENTS - CLINICAL SIGNS AND BIOCHEMICAL ANALYSES, American journal of medical genetics, 70(4), 1997, pp. 437-443