Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly

BMC Medical Genetics

Volumn 8, Issue , 2007, Pages

  Hassan, Muhammad Jawad ^a   Khurshid, Maryam ^a   Azeem, Zahid ^a   John, Peter ^a   Ali, Ghazanfar ^a   Chishti, Muhammad Salman ^a   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYCLIN DEPENDENT KINASE 5 REGULATORY SUBUNIT ASSOCIATED PROTEIN 2; GENE PRODUCT; UNCLASSIFIED DRUG; CDK5RAP2 PROTEIN, HUMAN; NERVE PROTEIN; SIGNAL PEPTIDE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 9Q; DNA SEQUENCE; EXON; FEMALE; GENE IDENTIFICATION; GENE SEQUENCE; HUMAN; HUMAN CELL; INTRON; LINKAGE ANALYSIS; MALE; MICROCEPHALY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PAKISTAN; SEQUENCE ANALYSIS; ADOLESCENT; CHROMOSOME 9; GENETIC LINKAGE; GENETIC VARIABILITY; GENETICS; PEDIGREE; POLYMERASE CHAIN REACTION; RECESSIVE GENE; STOP CODON;

ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 9; CODON, NONSENSE; FEMALE; GENES, RECESSIVE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LOD SCORE; MALE; MICROCEPHALY; NERVE TISSUE PROTEINS; PAKISTAN; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; VARIATION (GENETICS);

EID: 36048955857     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-8-58     Document Type: Article

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