Fabry disease: Polymorphic haplotypes and a novel missense mutation in the GLA gene

Clinical Genetics

Volumn 81, Issue 3, 2012, Pages 224-233

  Ferri, L ^a,b   Guido, C ^a,b   la Marca, G ^b   Malvagia, S ^b   Cavicchi, C ^b   Fiumara, A ^c   Barone, R ^c   Parini, R ^d   Antuzzi, D ^e   Feliciani, C ^e   Zampetti, A ^e   Manna, R ^e   Giglio, S ^a   Della Valle, C M ^f   Wu, X ^f   Valenzano, K J ^f   Benjamin, E R ^f   Donati, M A ^b   Guerrini, R ^b   Genuardi, M ^a   Morrone, A ^a,b   more..

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF CATANIA   (Italy)

^d SAN GERARDO HOSPITAL   (Italy)

^e CATHOLIC UNIVERSITY   (Italy)

^f Amicus Therapeutics   (United States)

Author keywords

Fabry disease; GLA gene variants; Haplotypes; Polymorphism

Indexed keywords

ALPHA GALACTOSIDASE; LEUCINE; METHIONINE; MIGALASTAT;

ALLELE; ARTICLE; CONTROLLED STUDY; DRUG RESPONSE; ENZYME ACTIVITY; FABRY DISEASE; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADULT; ALPHA-GALACTOSIDASE; CHILD; FABRY DISEASE; FEMALE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE;

EID: 84856509177     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01689.x     Document Type: Article

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