Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family.
Naseer, Muhammad I
Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family. [electronic resource] - Neurosciences (Riyadh, Saudi Arabia) Oct 2018 - 347-350 p. digital
Publication Type: Case Reports; Journal Article
1319-6138
10.17712/nsj.2018.4.20180095 doi
Adult
Cell Cycle Proteins
Child
Cytoskeletal Proteins
Female
Heterozygote
Humans
Male
Microcephaly--genetics
Mutation, Missense
Nerve Tissue Proteins--chemistry
Pedigree
Protein Domains
Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family. [electronic resource] - Neurosciences (Riyadh, Saudi Arabia) Oct 2018 - 347-350 p. digital
Publication Type: Case Reports; Journal Article
1319-6138
10.17712/nsj.2018.4.20180095 doi
Adult
Cell Cycle Proteins
Child
Cytoskeletal Proteins
Female
Heterozygote
Humans
Male
Microcephaly--genetics
Mutation, Missense
Nerve Tissue Proteins--chemistry
Pedigree
Protein Domains