An N‐acetylgalactosamine‐4‐sulfatase mutation (ΔG238) results in a severe Maroteaux‐Lamy phenotype

Human Mutation

Volumn 1, Issue 5, 1992, Pages 397-402

  Litjens, Tom ^a   Morris, C Phillip ^a   Robertson, Evelyn F ^a   Peters, Christoph ^b   von Figura, Kurt ^b   Hopwood, John J ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

Arylsulfatase B; Clinical phenotype; Gene mutation; Genotype phenotype correlation; Maroteaux Lamy syndrome; Mucopolysaccharidosis type VI; N Acetylgalactosamine 4 sulfatase

Indexed keywords

CHONDRO 4 SULFATASE; DNA;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHILD; DNA PROBE; ENZYMOLOGY; GENETICS; HUMAN; MALE; MAROTEAUX LAMY SYNDROME; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; NUTRITIONAL DEFICIENCY; PHENOTYPE; POLYMERASE CHAIN REACTION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CASE REPORT; CHILD; CHONDRO-4-SULFATASE; DNA; DNA MUTATIONAL ANALYSIS; DNA PROBES; HUMAN; MALE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS VI; PHENOTYPE; POLYMERASE CHAIN REACTION; SUPPORT, NON-U.S. GOV'T;

EID: 0027026880     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380010509     Document Type: Article

References (18)

1. Analysis of N‐acetylgalactosamine‐4‐sulfatase protein and kinetics in mucopolysaccharidosis type VI patients
2. Single‐step method of RNA isolation by acid guanidinium thiocyanate‐phenol‐chloroform extraction
3. Reactivity of cytosine and thymine in single‐base‐pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
4. Uridine diphospho‐N‐acetylgalactosamine‐4‐sulfate sulfohydralase activity of human arylsulfatase B and its deficiency in the Maroteaux‐Lamy syndrome
5. Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples
6. Diagnosis of Maroteaux‐Lamy syndrome by the use of radiolabelled oligonucleotides as substrates for the determination of arylsulphatase B activity
7. High‐resolution electrophoresis of urinary glycosaminoglycans
8. A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13‐q14
9. Mucopolysaccharidosis type VI: Identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity
10. Human N‐acetylgalactosamine‐4‐sulphatase: Protein maturation and isolation of genomic clones
11. Deficiency of chondroitin sulfate N‐acetylgalactosamine 4‐sulfate sulfatase in Maroteaux‐Lamy syndrome
12. Improved double‐stranded DNA sequencing using the linear polymerase chain reaction
13. The mucopolysaccharidoses
14. Maroteaux‐Lamy disease (mucopolysaccharidosis VI) subtype A: Deficiency of a N‐acetylgalactosamine 4‐sulfatase
15. Phylogenetic conservation of arylsulfatases: cDNA cloning and expression of human arylsulfatase B
16. Primer‐directed enzymatic amplification of DNA with a thermostable DNA polymerase
17. Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full‐length cDNA, and regions of amino acid identity with arylsulfatases A and C
18. Mucopolysaccharidosis VI (Maroteaux‐Lamy syndrome): An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B