Real-time PCR and linkage studies to identify carriers presenting HPRT deleted gene

Molecular Medicine

Volumn 12, Issue 9-10, 2006, Pages 246-251

  Lapucci, Cristina ^a,c   Pomarè Montin, Diego ^a   Pandolfo, Massimo ^b   Bertelli, Matteo ^a  

^a BIRD Europe Institute   (Italy)

^b ERASME HOSPITAL   (Belgium)

^c c/o Institute BIRD Europe ^*  (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MICROSATELLITE DNA; TIOGUANINE;

ALLELE; ARTICLE; AUTOMUTILATION; CELL MUTANT; CHEMICAL ANALYSIS; CHOREOATHETOSIS; CLINICAL ARTICLE; CONTROLLED STUDY; CULTURE MEDIUM; DIAGNOSTIC PROCEDURE; ENZYME ACTIVATION; ENZYME INACTIVATION; ERYTHROCYTE; EXON; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOTE DETECTION; HPRT GENE; HUMAN; HYPERURICEMIA; ITALY; LESCH NYHAN SYNDROME; LINKAGE ANALYSIS; MALE; MENTAL DEFICIENCY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; X CHROMOSOME LINKED DISORDER;

EID: 33845547003     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.2119/2005-00046.Lapucci     Document Type: Article

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