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Volumn 124 A, Issue 4, 2004, Pages 413-415

Does the P172H Mutation at the TM4SF2 Gene Cause X-Linked Mental Retardation? [2]

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; BLOOD SAMPLING; CHROMOSOME TRANSLOCATION X; CHROMOSOME XP; CLINICAL FEATURE; EXON; GENE; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC SCREENING; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MUTATIONAL ANALYSIS; NEUROPSYCHOLOGICAL TEST; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON; TM4SF2 GENE; X LINKED MENTAL RETARDATION;

EID: 0942268962     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20401     Document Type: Letter
Times cited : (15)

References (8)
  • 2
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    • Berditchevski F. 2001. Complexes of tetraspanins with integrins: More than meets the eye. J Cell Sci 114:4143-4151.
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    • Berditchevski, F.1
  • 3
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    • Listening to silence and understanding nonsense: Exonic mutations that affect splicing
    • Cartegni L, Chew SL, Krainer AR. 2002. Listening to silence and understanding nonsense: Exonic mutations that affect splicing. Nature Rev Genet 3:285-298.
    • (2002) Nature Rev Genet , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 5
    • 0035158730 scopus 로고    scopus 로고
    • A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
    • Liu HX, Cartegni L, Zhang MQ, Krainer AR. 2001. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nature Genet 27:55-58.
    • (2001) Nature Genet , vol.27 , pp. 55-58
    • Liu, H.X.1    Cartegni, L.2    Zhang, M.Q.3    Krainer, A.R.4
  • 6
    • 0030947554 scopus 로고    scopus 로고
    • The tetraspanin superfamily: Molecular facilitators
    • Maecker HT, Todd SC, Levy S. 1997. The tetraspanin superfamily: Molecular facilitators. FASEB J 11:428-442.
    • (1997) FASEB J , vol.11 , pp. 428-442
    • Maecker, H.T.1    Todd, S.C.2    Levy, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.