Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome

Human Mutation

Volumn 10, Issue 5, 1997, Pages 393-399

  Wang, Yi Chun ^a   Lin Mei Ling, ^a   Lin Jean, Shio ^b   Li, Yueh Chun ^a   Li, Shuan Yow ^a,c  

^a CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^b NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

^c Chung San Medical and Dental College   (Taiwan)

Author keywords

Alternative splicing; FMR 1; Fragile X syndrome; Point mutation; SSCP

Indexed keywords

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CONTROLLED STUDY; FRAGILE X SYNDROME; HUMAN; INTRON; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ALTERNATIVE SPLICING; BASE SEQUENCE; CHILD; DNA, COMPLEMENTARY; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; INTRONS; MALE; NERVE TISSUE PROTEINS; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 0030836287     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:5<393::AID-HUMU10>3.0.CO;2-V     Document Type: Article

References (7)

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