Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia

Molecular Human Reproduction

Volumn 22, Issue 1, 2015, Pages 35-45

  Ghedir, Houda ^a   Ibala Romdhane, Samira ^a   Okutman, Ozlem ^b,c   Viot, Geńraldine ^d   Saad, Ali ^a   Viville, Steńphane ^b,c  

^a FARHAT HACHED HOSPITAL   (Tunisia)

^b INSERM   (France)

^c UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^d Hopital Cochin ^*  (France)

Author keywords

Breakpoints; DPY19L2; Globozoospermia; Male infertility; Non allelic homologous recombination; Round headed

Indexed keywords

NUCLEOTIDE; CARRIER PROTEIN; DPY19L2 PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; MEMBRANE PROTEIN; NUCLEAR PROTEIN; PICK1 PROTEIN, HUMAN; RNA SPLICING; SPATA16 PROTEIN, HUMAN;

ARTICLE; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION BREAKPOINT; DPY19L2 GENE; EXON; GENE; GENE MUTATION; GLOBOZOOSPERMIA; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MALE; MALE INFERTILITY; PICK1 GENE; POINT MUTATION; PRIORITY JOURNAL; SEGMENTAL DUPLICATION; SEMEN ABNORMALITY; SINGLE NUCLEOTIDE POLYMORPHISM; SPATA16 GENE; TUNISIAN; ABNORMALITIES; ACROSOME; ALLELE; CONSANGUINITY; DEFICIENCY; EPIDEMIOLOGY; GENE DELETION; GENE DOSAGE; GENETICS; PHYSIOLOGY; RNA SPLICING; SEQUENCE ALIGNMENT; SPERMATOZOON; TUNISIA; ULTRASTRUCTURE;

ACROSOME; ALLELES; CARRIER PROTEINS; CHROMOSOME BREAKPOINTS; CONSANGUINITY; EXONS; GENE DELETION; GENE DOSAGE; HAPLOTYPES; HOMEODOMAIN PROTEINS; HUMANS; INFERTILITY, MALE; MALE; MEMBRANE PROTEINS; NUCLEAR PROTEINS; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES; SEQUENCE ALIGNMENT; SPERMATOZOA; TUNISIA;

EID: 84960107948     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gav061     Document Type: Article

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