A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient.
Birot
A M
AM
Laboratoire de Biochimie Pédiatrique (M. Mathieu), Hŏpital Debrousse, Lyon, France.
Delobel
B
B
Gronnier
P
P
Bonnet
V
V
Maire
I
I
Bozon
D
D
D002675:Child, Preschool; D002871:Chromosome Banding; D004303:Dosage Compensation, Genetic; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D007962:Leukocytes / Q000737:chemistry; D008214:Lymphocytes / Q000737:chemistry; D008297:Male; D016532:Mucopolysaccharidosis II / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics*; D016601:RNA-Binding Proteins; D017384:Sequence Deletion; D014960:X Chromosome / Q000235:genetics
D051860:Fragile X Messenger Ribonucleoprotein 1; D005819:Genetic Markers; D007066:Iduronate Sulfatase; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human