Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)

European Journal of Human Genetics

Volumn 21, Issue 11, 2013, Pages 1214-1218

  Gonzalez, Michael ^a   Nampoothiri, Sheela ^b   Kornblum, Cornelia ^c   Oteyza, Andrés Caballero ^d   Walter, Jochen ^c   Konidari, Ioanna ^a   Hulme, William ^a   Speziani, Fiorella ^a   Schöls, Ludger ^d   Züchner, Stephan ^a   Schüle, Rebecca ^a,d  

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

^b AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

^c UNIVERSITY OF BONN   (Germany)

^d UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

exome sequencing; Hereditary spastic paraplegia; neurodegenerative disease

Indexed keywords

PHOSPHOLIPASE; PHOSPHOLIPASE A1; PHOSPHOLIPASE DDHD2; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CELL MIGRATION; CHILD; CORPUS CALLOSUM AGENESIS; ENDOPLASMIC RETICULUM; EXOME; FAMILY; FEMALE; GENE; GENE MUTATION; GOLGI COMPLEX; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IN VITRO STUDY; INTRACELLULAR MEMBRANE; LIPID METABOLISM; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; SPASTIC PARAPLEGIA;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHOSPHOLIPASES; REPRODUCIBILITY OF RESULTS; SPASTIC PARAPLEGIA, HEREDITARY; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84885943070     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.29     Document Type: Article

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