Molecular basis of mucopolysaccharidosis type II in Portugal: Identification of four novel mutations [2]

Clinical Genetics

Volumn 60, Issue 4, 2001, Pages 316-318

  Moreira Da Silva, I ^a   Froissart, R ^b   Marques Dos Santos, H ^a   Caseiro, C ^c   Maire, I ^b   Bozon, D ^d,e  

^a RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

^b HÔPITAL DEBROUSSE   (France)

^c NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^d Hospices Civils de Lyon   (France)

^e UNIVERSITÉ LYON 1   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; IDURONATE 2 SULFATASE;

ADOLESCENT; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION FUNCTION; GENETIC COUNSELING; GENOTYPE; HUMAN; HUNTER SYNDROME; LETTER; LYSOSOME STORAGE DISEASE; MISSENSE MUTATION; MOLECULAR GENETICS; MOSAICISM; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PORTUGAL; PRIORITY JOURNAL; SCHOOL CHILD; SOUTHERN BLOTTING; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; BASE SEQUENCE; BLOTTING, SOUTHERN; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IDURONATE SULFATASE; MALE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS II; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PORTUGAL; RNA SPLICE SITES;

EID: 0034752278     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.600412.x     Document Type: Letter

References (10)

1. The mucopolysaccharidosis
2. Hunter syndrome: Isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA
3. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfatase locus
4. Inversion of the IDS gene resulting from the recombination with IDS-related sequences is a common cause of the Hunter syndrome
5. Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients
6. IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient
7. Hunter disease in the Spanish population: Molecular analysis in 31 families
8. Sequence determinants directing conversion of cysteine to formylglycine in eukaryotic sulfatases
9. Mutation analysis in 20 patients with Hunter disease