The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.

Human mutation

Volumn 26, Issue 5, 2005, Pages 496-

  Trimborn, Marc ^a   Richter, Reyk ^a   Sternberg, Nadine ^a   Gavvovidis, Ioannis ^a   Schindler, Detlev ^a   Jackson, Andrew P ^a   Prott, Eva Christina ^a   Sperling, Karl ^a   Gillessen Kaesbach, Gabriele ^a   Neitzel, Heidemarie ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MCPH1 PROTEIN, HUMAN; NERVE PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; CAUCASIAN; CELL CULTURE; CHILD; CHROMOSOME; ETHNOLOGY; GENETICS; HUMAN; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; SEQUENCE ALIGNMENT; T LYMPHOCYTE; ULTRASTRUCTURE;

AMINO ACID SEQUENCE; CELLS, CULTURED; CHILD; CHROMOSOMES; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; HUMANS; MALE; MENTAL RETARDATION; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PHENOTYPE; SEQUENCE ALIGNMENT; T-LYMPHOCYTES;

EID: 30844470110     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9382     Document Type: Article

References (0)