milinfo In affected members of Italian family with EDSS they identified compound heterozygosity for mutations PVRL gene . Castiglia D

Kiabi evreux

Kiabi evreux

Jbc cgi pmidlookupview long Contributors Marla . ECTODERMAL SYNDROME NECTIN PROARG dbSNP rs RCV affected members of consanguineous Pakistani family with EDSS Jelani et . PubMed Full Text https retrieve pii Fortugno . Thank you in advance for your generous support Ada Hamosh MD MPH Scientific Director OMIM Donate На Entry эту . Shore

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Pointe de l arcouest

Pointe de l arcouest

H. S. ECTODERMAL SYNDROME NECTIN GLNTER rs affected members including sibs from large generation consanguineous Pakistani family with dysplasia and syndactyly EDSS Raza et

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Bredin prat

Bredin prat

Nectin a new serological breast cancer marker is substrate for tumor necrosis factoralpha converting enzyme TACE ADAM. Bellacchio . jhg. Thank you in advance for your generous support Ada Hamosh MD MPH Scientific Director OMIM Donate На Entry эту . ECTODERMAL SYNDROME NECTIN BP DEL rs For discussion of the deletion delT PVRL gene that was found compound heterozygous state patients with EDSS by Brancati . ahg

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Chalmazel ski

Chalmazel ski

The mutation which was not found in controls is predicted to disrupt structure of protein. Kniffinupdated Creation Laura . S. DibLachachi

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Pejoti

Pejoti

D. Adherens junction protein nectin is the epithelial receptor for measles virus. Ann

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Llanca espagne

Llanca espagne

While the OMIM database is open to public users seeking information about personal medical genetic condition are urged consult with qualified physician diagnosis and answers questions. In affected members of an Italian family with EDSS they identified compound heterozygosity for mutations PVRL gene TM . Chishti M. In affected members of large generation consanguineous Pakistani family with EDSS Raza et al

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Kniffinupdated Creation Nara Sobreira Edit History carol ckniffin NOTE OMIM intended for use primarily by physicians and other professionals concerned with genetic disorders genetics researchers advanced students science medicine. They observed perturbed clustering of nectin at keratinocyte contact sites with TM mutant compared to wildtype PVRL addition there was delayed cellcell aggregation and cadherin see recruitment adherens junctions. Ramachandran S