Genetic diagnosis of Werdnig-Hoffmann disease: A problem for application to prenatal diagnosis

Journal of Nippon Medical School

Volumn 70, Issue 1, 2003, Pages 45-48

  Migita, Makoto ^a   Uchikoba, Yohko ^a   Orimo, Hideo ^a   Shimada, Takashi ^a   Matsumoto, Tae ^a   Hayakawa, Jun ^a   Fujino, Osamu ^a   Saitoh, Makiko ^b   Fukunaga, Yoshitaka ^a  

^a NIPPON MEDICAL SCHOOL   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

Author keywords

NAIP; Neuronal apoptosis inhibitory protein gene; PCR; Polymerase chain reaction; Prenatal diagnosis; SMN; Survival motor neuron gene; Werdnig Hoffmann disease (spinal muscular atrophy type 1; SMA type 1)

Indexed keywords

ARTICLE; CASE REPORT; CHORION VILLUS; DIAGNOSTIC VALUE; EXON; FETUS; GENE; GENE DELETION; GENETIC ANALYSIS; GENETIC PROCEDURES; HUMAN; KLINEFELTER SYNDROME; MALE; NEURONAL APOPTOSIS INHIBITORY PROTEIN GENE; NEWBORN; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; SURVIVAL MOTOR NEURON GENE; WERDNIG HOFFMANN DISEASE;

EID: 0037297507     PISSN: 13454676     EISSN: None     Source Type: Journal    
DOI: 10.1272/jnms.70.45     Document Type: Article

References (9)

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