A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome
A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome
About this item
Full title
Author / Creator
Publisher
New York: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Springer US
Subjects
More information
Scope and Contents
Contents
Purpose
To identify the pathogenic mutation in
PMFBP1
leading to acephalic spermatozoa syndrome.
Methods
Sanger sequencing was used to screen for mutations in the known pathogenic genes
SUN5
and
PMFBP1
in a patient with acephalic spermatozoa syndrome. Western blotting and immunofluorescence were used to detect the express...
Alternative Titles
Full title
A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8079480
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8079480
Other Identifiers
ISSN
1058-0468
E-ISSN
1573-7330
DOI
10.1007/s10815-021-02075-7
