A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene

Gene

Volumn 571, Issue 1, 2015, Pages 149-150

  Ghafouri Fard, Soudeh ^a   Fardaei, Majid ^b   Gholami, Milad ^a   Miryounesi, Mohammad ^a  

^a SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

MCPH1; Microcephaly; New mutation; Sex influenced

Indexed keywords

ADOLESCENT; ADULT; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DNA METHYLATION; DNA SEQUENCE; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; IRANIAN (CITIZEN); LETTER; MALE; MARKER GENE; MCPH1 GENE; MICROCEPHALY; PHENOTYPE; PRIORITY JOURNAL; YOUNG ADULT; AMINO ACID SEQUENCE; CONSANGUINITY; FAMILY HEALTH; GENE DELETION; GENETICS; HOMOZYGOTE; INTRON; IRAN; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; RNA SPLICING; SEQUENCE HOMOLOGY;

MCPH1 PROTEIN, HUMAN; NERVE PROTEIN; RNA SPLICING;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HOMOZYGOTE; HUMANS; INTRONS; IRAN; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; RNA SPLICE SITES; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 84939271002     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2015.07.058     Document Type: Letter

References (8)

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