Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.

Lebel, R R

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. [electronic resource] - Clinical genetics Feb 2002 - 139-45 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0009-9163

10.1034/j.1399-0004.2002.610209.x doi


Adult
Exons
Family Health
Female
Gene Silencing
Guanine Nucleotide Exchange Factors
Humans
Intellectual Disability--genetics
Leucine--metabolism
Male
Mutation
Mutation, Missense
Pedigree
Polymorphism, Single-Stranded Conformational
Proteins--genetics
Syndrome
X Chromosome
src Homology Domains