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Volumn 13, Issue 10, 2014, Pages 1650-1651
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Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations
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Author keywords
[No Author keywords available]
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Indexed keywords
ASPM GENE;
AUTOSOMAL RECESSIVE DISORDER;
CHROMOSOME 10Q;
CONSANGUINEOUS MARRIAGE;
FRAMESHIFT MUTATION;
GENE;
GENE MUTATION;
GENERALIZED EPILEPSY;
HEAD CIRCUMFERENCE;
HETEROZYGOTE;
HUMAN;
INTELLECTUAL IMPAIRMENT;
LETTER;
LINKAGE ANALYSIS;
MICROCEPHALY;
NONSENSE MUTATION;
PEDIGREE ANALYSIS;
PHENOTYPE;
CHROMOSOME SEGREGATION;
FEMALE;
GENETICS;
MALE;
METABOLISM;
NONHISTONE PROTEIN;
PROTEIN SERINE THREONINE KINASE;
CHROMOSOMAL PROTEINS, NON-HISTONE;
CHROMOSOME SEGREGATION;
FEMALE;
HUMANS;
MALE;
MICROCEPHALY;
PROTEIN-SERINE-THREONINE KINASES;
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EID: 84900527959
PISSN: 15384101
EISSN: 15514005
Source Type: Journal
DOI: 10.4161/cc.28706 Document Type: Letter |
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Times cited : (9)
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References (8)
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