SCOPUS 정보 검색 플랫폼

Human Mutation

Volumn 19, Issue 2, 2002, Pages 114-121

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy

(6) Herman, Gail E a,b Kopacz, Kevin a,b Zhao, Wei a,b Mills, Patti L c Metzenberg, Aida d Das, Soma c

a THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL (United States)

b OHIO STATE UNIVERSITY (United States)

c UNIVERSITY OF CHICAGO (United States)

d CALIFORNIA STATE UNIVERSITY (United States)

Author keywords

MTM; MTM1; Myopathy; Myotubular myopathy; Myotubularin; North American; Phosphatase; X linked; XLMTM

Indexed keywords

ARTICLE; CENTRONUCLEAR MYOPATHY; CLINICAL ARTICLE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENOTYPE; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; MALE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; UNITED STATES;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC COUNSELING; HETEROZYGOTE; HUMANS; INFANT; INTRONS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEIN-TYROSINE-PHOSPHATASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; UNITED STATES; X CHROMOSOME;

EID: 0036159210 PISSN: 10597794 EISSN: None Source Type: Journal
DOI: 10.1002/humu.10033 Document Type: Article

Times cited : (70)

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