Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome

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@article{2770949909b04f8199bdae5a7910bde6,

title = "Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome",

author = "Waterham, {H. R.} and W. Oostheim and Romeijn, {G. J.} and Wanders, {R. J.} and Hennekam, {R. C.}",

year = "2000",

doi = "https://doi.org/10.1136/jmg.37.5.387",

language = "English",

volume = "37",

pages = "387--389",

journal = "Journal of medical genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "5",

}

TY - JOUR

T1 - Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome

AU - Waterham, H. R.

AU - Oostheim, W.

AU - Romeijn, G. J.

AU - Wanders, R. J.

AU - Hennekam, R. C.

PY - 2000

Y1 - 2000

U2 - https://doi.org/10.1136/jmg.37.5.387

DO - https://doi.org/10.1136/jmg.37.5.387

M3 - Comment/Letter to the editor

C2 - 10905895

SN - 0022-2593

VL - 37

SP - 387

EP - 389

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 5

ER -