Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy

Chinese Journal of Medical Genetics

Volumn 28, Issue 2, 2011, Pages 121-126

  Qu, Yu Jin ^a   Du, Juan ^a   Li, Er Zhen ^a   Yang, Yan Ling ^b   Zou, Li Ping ^c   Bai, Jin Li ^a   Wang, Hong ^a   Jin, Yu Wei ^a   Song, Fang ^a  

^a CAPITAL INSTITUTE OF PEDIATRICS   (China)

^b PEKING UNIVERSITY FIRST HOSPITAL   (China)

^c CHINESE PLA GENERAL HOSPITAL   (China)

Author keywords

Copy numbers; Point mutation; Spinal muscular atrophy; Survival motor neuron gene 1

Indexed keywords

ARTICLE; CHINESE; CLINICAL ARTICLE; COPY NUMBER VARIATION; GENE; HETEROZYGOSITY; HUMAN; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NEURONAL APOPTOSIS INHIBITORY PROTEIN GENE; POINT MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPINAL MUSCULAR ATROPHY; SURVIVAL MOTOR NEURON GENE 1;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC COUNSELING; HETEROZYGOTE; HUMANS; MUSCULAR ATROPHY, SPINAL; NEURONAL APOPTOSIS-INHIBITORY PROTEIN; POINT MUTATION; PRENATAL DIAGNOSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 79955867219     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2011.02.001     Document Type: Article

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