Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

Human Mutation

Volumn 7, Issue 3, 1996, Pages 198-201

  Capon, Francesca ^a   Levato, Chiarina ^a   Bussaglia, Elena ^d   Cicero, Stefania Lo ^a   Tizzano, Eduardo F ^d   Baiget, Monserrat ^d   Silani, Vincenzo ^c   Pizzuti, Antonio ^c   Novelli, Giuseppe ^e   Dallapiccola, Bruno ^a,b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b Ospedale CSS   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^e CATHOLIC UNIVERSITY   (Italy)

Author keywords

Gene deletions; Simple tandem repeats; SMA; Spinal muscular atrophy; STRs

Indexed keywords

DNA;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME 5Q; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MOTOR NEURON DISEASE; PEDIGREE ANALYSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TANDEM REPEAT;

ALLELES; CHROMOSOMES, HUMAN, PAIR 5; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; GENE DELETION; GENE DOSAGE; GENETIC MARKERS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ITALY; LINKAGE (GENETICS); MALE; MUSCULAR ATROPHY, SPINAL; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; REPETITIVE SEQUENCES, NUCLEIC ACID; SPAIN;

EID: 19144371365     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:3<198::AID-HUMU3>3.0.CO;2-7     Document Type: Article

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