SCOPUS 정보 검색 플랫폼

Volumn 101, Issue 3, 2001, Pages 198-202

SMN2-deletion in childhood-onset spinal muscular atrophy

(6) Srivastava, Sandhya a Mukherjee, Monisha a Panigrahi, Inusha a Pandey, Gouri Shanker a Pradhan, Sunil a Mittal, Balraj a

a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES (India)

Author keywords

Anterior horn cell disease; Homozygous deletion; SMN1; SMN2; Spinal muscular atrophy (SMA); Survival motor neuron genes

Indexed keywords

ARTICLE; CASE REPORT; DNA DETERMINATION; GENE DELETION; GENOME; HOMOZYGOSITY; HUMAN; MALE; MOTONEURON; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; NERVE CONDUCTION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINAL MUSCULAR ATROPHY;

CHILD; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA; FAMILY HEALTH; GENE DELETION; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA-BINDING PROTEINS;

EID: 0035400076 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.1386 Document Type: Article

Times cited : (15)

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