A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male hunter patient

Human Mutation

Volumn 7, Issue 3, 1996, Pages 266-268

  Birot, A M ^a   Delobel, B ^b   Gronnier, P ^b   Bonnet, V ^a   Maire, I ^a   Bozon, D ^a  

^a HÔPITAL DEBROUSSE   (France)

^b HÔPITAL SAINT ANTOINE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DERMATAN SULFATE; HEPARAN SULFATE; IDURONATE 2 SULFATASE;

CASE REPORT; CHROMOSOME XQ; CYTOGENETICS; ENZYME DEFICIENCY; GENE DELETION; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN CELL; HUNTER SYNDROME; INBORN ERROR OF METABOLISM; INFANT; LYSOSOME STORAGE DISEASE; MALE; PRIORITY JOURNAL; SHORT SURVEY; X CHROMOSOME RECESSIVE DISORDER;

CHILD, PRESCHOOL; CHROMOSOME BANDING; DOSAGE COMPENSATION, GENETIC; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC MARKERS; HUMANS; IDURONATE SULFATASE; LEUKOCYTES; LINKAGE (GENETICS); LYMPHOCYTES; MALE; MENTAL RETARDATION; MUCOPOLYSACCHARIDOSIS II; NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS; SEQUENCE DELETION; X CHROMOSOME;

EID: 0029919778     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:3<266::AID-HUMU12>3.0.CO;2-0     Document Type: Short Survey

References (10)

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