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A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome.

Authors :
Miyake, N.
Ozasa, S.
Mabe, H.
Kimura, S.
Shiina, M.
Imagawa, E.
Miyatake, S.
Nakashima, M.
Mizuguchi, T.
Takata, A.
Ogata, K.
Matsumoto, N.
Source :
Clinical Genetics; Apr2018, Vol. 93 Issue 4, p929-930, 5p, 1 Color Photograph
Publication Year :
2018

Subjects

Subjects :
MISSENSE mutation
AMINO acids

Details

Language :
English
ISSN :
00099163
Volume :
93
Issue :
4
Database :
Complementary Index
Journal :
Clinical Genetics
Publication Type :
Academic Journal
Accession number :
128483179
Full Text :
https://doi.org/10.1111/cge.13105