Analysis of Sanfilippo A gene mutations in a large pedigree

Clinical Genetics

Volumn 63, Issue 4, 2003, Pages 314-318

  Di Natale, Paola ^a   Villani, G R D ^a   Di Domenico, C ^a   Daniele, A ^a   Dionisi Vici, C ^b   Bartuli, A ^b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Genetic analysis; Sanfilippo A mutations

Indexed keywords

GLYCOSAMINOGLYCAN; SULFAMIDASE; SULFATASE; UNCLASSIFIED DRUG;

CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; LYSOSOME STORAGE DISEASE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SANFILIPPO SYNDROME; SHORT SURVEY; SINGLE STRAND CONFORMATION POLYMORPHISM; URINARY EXCRETION;

ADOLESCENT; CHILD, PRESCHOOL; HUMANS; ITALY; MALE; MUCOPOLYSACCHARIDOSIS III; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA;

EID: 0043133576     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00053.x     Document Type: Short Survey

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