Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy

Human Molecular Genetics

Volumn 6, Issue 9, 1997, Pages 1499-1504

  De Gouyon, Beatrice M ^a   Zhao, Wei ^a   Laporte, Jocelyn ^b   Mandel, Jean Louis ^b   Metzenberg, Aida ^c   Herman, Gail E ^a,d  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^c CALIFORNIA STATE UNIVERSITY   (United States)

^d OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE;

ARTICLE; CENTRONUCLEAR MYOPATHY; CLINICAL ARTICLE; DELETION MUTANT; DISEASE SEVERITY; EXON; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING;

EXONS; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); MALE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-TYROSINE-PHOSPHATASE; SEQUENCE ANALYSIS, DNA; X CHROMOSOME;

EID: 0030833392     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.9.1499     Document Type: Article

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