Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia

Clinical Genetics

Volumn 79, Issue 6, 2011, Pages 523-530

  Mccorquodale, D S ^a   Ozomaro, U ^a   Huang, J ^a   Montenegro, G ^a   Kushman, A ^a   Citrigno, L ^a   Price, J ^a   Speziani, F ^a   Pericak Vance, M A ^a   Zuchner S ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

ATL1; Hereditary spastic paraplegia; REEP1; SPAST

Indexed keywords

SPASTIN;

ADOLESCENT; ADULT; ARTICLE; ATLASTIN GENE; CHILD; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NORTH AMERICA; PRESCHOOL CHILD; PRIORITY JOURNAL; REEP1 GENE; SCHOOL CHILD;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; GENETIC MARKERS; GENETIC TESTING; GTP PHOSPHOHYDROLASES; HUMANS; INDEL MUTATION; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 79955635826     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01501.x     Document Type: Article

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