EX-HOM (EXome HOMozygosity): A proof of principle

Human Heredity

Volumn 72, Issue 1, 2011, Pages 45-53

  Pippucci, Tommaso ^a   Benelli, Matteo ^b,c,d   Magi, Alberto ^c,d,e   Martelli, Pier Luigi ^a   Magini, Pamela ^a   Torricelli, Francesca ^c   Casadio, Rita ^a   Seri, Marco ^a   Romeo, Giovanni ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b INFN SEZIONE DI FIRENZE   (Italy)

^c CAREGGI UNIVERSITY HOSPITAL   (Italy)

^d Center for the Study of Complex Dynamics   (Italy)

^e UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Autosomal recessive disorders; Consanguinity; Exome sequencing; Homozygosity mapping

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONTROLLED STUDY; DYSMYELINATING LEUKODYSTROPHY; EXOME; FEMALE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC HETEROGENEITY; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE;

EXONS; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HOMOZYGOTE; HUMANS; ITALY; LOD SCORE; MIXED FUNCTION OXYGENASES; PARAPARESIS, SPASTIC; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SIBLINGS;

EID: 80051660932     PISSN: 00015652     EISSN: 14230062     Source Type: Journal    
DOI: 10.1159/000330164     Document Type: Article

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