Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

Nature Genetics

Volumn 29, Issue 3, 2001, Pages 326-331

  Zhao, Xinping ^a   Alvarado, David ^a   Rainier, Shirley ^a   Lemons, Rosemary ^a   Hedera, Peter ^a   Weber, Christian H ^a   Tukel, Turgut ^b   Apak, Memnune ^b   Heiman Patterson, Terry ^c   Ming, Lei ^a   Bui, Melanie ^a   Fink, John K ^a,d  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b ISTANBUL UNIVERSITY   (Turkey)

^c DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^d VA ANN ARBOR HEALTHCARE SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GUANOSINE TRIPHOSPHATASE; PROTEIN SPG4; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 14Q; CHROMOSOME 2P; CLINICAL FEATURE; CONTROLLED STUDY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; MUSCLE WEAKNESS; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; SPASTIC PARAPLEGIA;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 2; CLONING, MOLECULAR; CONTIG MAPPING; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; LOD SCORE; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN CONFORMATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 0035184654     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng758     Document Type: Article

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