Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.

Human mutation

Volumn 24, Issue 2, 2004, Pages 187-188

  Tomatsu, Shunji ^a   Filocamo, Mirella ^a   Orii, Koji O ^a   Sly, William S ^a   Gutierrez, Monica A ^a   Nishioka, Tatsuo ^a   Serrato, Olga Peña ^a   Di Natale, Paola ^a   Montaño, Adriana Maria ^a   Yamaguchi, Seiji ^a   Kondo, Naomi ^a   Orii, Tadao ^a   Noguchi, Akihiko ^a  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; GALNS PROTEIN, HUMAN; N ACETYLGALACTOSAMINE 4 SULFATASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; DIAGNOSTIC PROCEDURE; DNA SEQUENCE; ENZYMOLOGY; FEMALE; GENETICS; GENOTYPE; HUMAN; IMMUNOLOGY; ITALY; MALE; METHODOLOGY; MORQUIO SYNDROME; MUTATION; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

ADOLESCENT; ADULT; BIOLOGICAL MARKERS; BLOTTING, WESTERN; CHILD; CHONDROITINSULFATASES; FEMALE; GENOTYPE; HUMANS; ITALY; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUCOPOLYSACCHARIDOSIS IV; MUTATION; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

MLCS; MLOWN;

EID: 6044259013     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9265     Document Type: Article

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