Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3

Annals of Clinical and Laboratory Science

Volumn 40, Issue 4, 2010, Pages 375-379

  Kwon, Min Jung ^a   Lee, Seung Tae ^a   Kim, Jong Won ^a   Sung, Duk Hyun ^a   Ki, Chang Seok ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

ATL1 mutation; Atlastin GTPase 1; Hereditary spastic paraplegia

Indexed keywords

ADULT; ARTICLE; ATL1 GENE; CASE REPORT; CEREBRAL PALSY; FEMALE; GENE; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY MOTOR SENSORY NEUROPATHY TYPE 3; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; SOUTH KOREA;

ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; INFANT; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 77958066103     PISSN: 00917370     EISSN: 15508080     Source Type: Journal    
DOI: None     Document Type: Article

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