Navajo microvillous inclusion disease is due to a mutation in  MYO5B | Zendy

Erickson Robert P. | Zendy; LarsonThomé Katherine | Zendy; Valenzuela Robert K. | Zendy; Whitaker Stacia E. | Zendy; Shub Mitchell D. | Zendy

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Navajo microvillous inclusion disease is due to a mutation in MYO5B

Author(s) -

Erickson Robert P.,

LarsonThomé Katherine,

Valenzuela Robert K.,

Whitaker Stacia E.,

Shub Mitchell D.

Publication year - 2008

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.32605

Subject(s) - loss of heterozygosity , mutation , navajo , disease , genetics , biology , inclusion (mineral) , compound heterozygosity , medicine , allele , gene , psychology , social psychology , linguistics , philosophy

Microvillous Inclusion Disease (MID) is a rare, autosomal recessive gastrointestinal disease of increased frequency among the Navajos. Previous work has shown a deficiency of RAB8 in one Japanese patient, while homozygous mutations in MYO5B were found in 7 of 10 mostly Middle Eastern families. We have identified a shared homozygous mutation in MYO5B in seven affected Navajos with the expected heterozygosity in five parents. We have developed a simple restriction enzyme based assay that allows for rapid screening for this mutation. © 2008 Wiley‐Liss, Inc.

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