Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

Prenatal Diagnosis

Volumn 24, Issue 5, 2004, Pages 363-366

  Nielsen, Joørgen E ^a,b   Koefoed, Pernille ^b   Kjaergaard, Susanne ^b   Jensens, Lisa Neerup ^c   Noørremoølle, Anne ^a   Hasholt, Lis ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b Rigshospitalet   (Denmark)

^c GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Hereditary spastic paraplegia; HSP; Prenatal diagnosis; SPG4

Indexed keywords

DNA; SPASTIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHORION VILLUS SAMPLING; CHROMOSOME 2P; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FAMILY; FATHER; FEMALE; FETUS; FIRST TRIMESTER PREGNANCY; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC MARKER; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MALE; MOTHER; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN FUNCTION; SPG4 GENE;

ADULT; BASE SEQUENCE; CHORIONIC VILLI SAMPLING; FEMALE; GENES, DOMINANT; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; SPASTIC PARAPLEGIA, HEREDITARY;

INSERTION SEQUENCES;

EID: 2642582687     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.875     Document Type: Article

References (11)

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