Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals

Human Molecular Genetics

Volumn 4, Issue 10, 1995, Pages 1927-1933

  Hahnen, Eric ^a   Forkert, Randolf ^a   Marke, Christine ^a   Rudnik schöneborn, Sabine ^a   Schönling, Jutta ^a   Zerres, Klaus ^a   Creavin, T ^a   Wirth, Brunhilde ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

APOPTOSIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 5Q; CONTROLLED STUDY; EXON; GENE DELETION; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MOTONEURON; MUSCLE WEAKNESS; PHENOTYPE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE STUDY; EXONS; FAMILY; FEMALE; GENE DELETION; GENES, RECESSIVE; HOMOZYGOTE; HUMAN; INFANT; INFANT, NEWBORN; MALE; MOTOR NEURONS; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SUPPORT, NON-U.S. GOV'T;

EID: 0028785098     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/4.10.1927     Document Type: Article

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