Analysis of the pathogenicity of two missense mutations c.302G > A (G101 D) and c.2146G > A (V716M) within a diagnostic laboratory

W.P. Logan, L.A. Devlin, S. McKee, K. Sweet, A. Magee, Patrick Morrison, C.A. Graham

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@article{09257efecef54f10929fc0ae632309db,

title = "Analysis of the pathogenicity of two missense mutations c.302G > A (G101 D) and c.2146G > A (V716M) within a diagnostic laboratory",

author = "W.P. Logan and L.A. Devlin and S. McKee and K. Sweet and A. Magee and Patrick Morrison and C.A. Graham",

year = "2005",

month = sep,

language = "English",

volume = "42",

pages = "S116--S116",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

}

TY - JOUR

T1 - Analysis of the pathogenicity of two missense mutations c.302G > A (G101 D) and c.2146G > A (V716M) within a diagnostic laboratory

AU - Logan, W.P.

AU - Devlin, L.A.

AU - McKee, S.

AU - Sweet, K.

AU - Magee, A.

AU - Morrison, Patrick

AU - Graham, C.A.

PY - 2005/9

Y1 - 2005/9

M3 - Article

SN - 0022-2593

VL - 42

SP - S116-S116

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

ER -