A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex [9]

Journal of Medical Genetics

Volumn 38, Issue 5, 2001, Pages 347-349

  Khare, Leena ^a   Strizheva, Galina D ^a,b   Bailey, Julia N ^c   Au, Kit Sing ^d   Northrup, Hope ^d   Smith, Moyra ^e   Smalley, Susan L ^c   Henske, Elizabeth Petri ^a  

^a FOX CHASE CANCER CENTER   (United States)

^b PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY   (Russian Federation)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN;

CLINICAL ARTICLE; EXON; HUMAN; LETTER; MISSENSE MUTATION; PRIORITY JOURNAL; TUBEROUS SCLEROSIS;

BASE SEQUENCE; EXONS; GENES, DOMINANT; GTPASE-ACTIVATING PROTEINS; HUMANS; MENTAL DISORDERS; MUTATION, MISSENSE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS; SEQUENCE HOMOLOGY; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0035026453     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (13)

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