Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ratbi, Ilham
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. [electronic resource] - American journal of human genetics Oct 2015 - 535-45 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2015.08.011 doi
ATPases Associated with Diverse Cellular Activities
Adenosine Triphosphatases--genetics
Adolescent
Adult
Amelogenesis Imperfecta--genetics
Case-Control Studies
Cells, Cultured
Child
Child, Preschool
Female
Fibroblasts--metabolism
Follow-Up Studies
Hearing Loss, Sensorineural--genetics
Humans
Infant
Infant, Newborn
Male
Membrane Proteins--genetics
Mutation--genetics
Nails, Malformed--genetics
Pedigree
Peroxisomes--metabolism
Phenotype
Prognosis
Survival Rate
Young Adult
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. [electronic resource] - American journal of human genetics Oct 2015 - 535-45 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2015.08.011 doi
ATPases Associated with Diverse Cellular Activities
Adenosine Triphosphatases--genetics
Adolescent
Adult
Amelogenesis Imperfecta--genetics
Case-Control Studies
Cells, Cultured
Child
Child, Preschool
Female
Fibroblasts--metabolism
Follow-Up Studies
Hearing Loss, Sensorineural--genetics
Humans
Infant
Infant, Newborn
Male
Membrane Proteins--genetics
Mutation--genetics
Nails, Malformed--genetics
Pedigree
Peroxisomes--metabolism
Phenotype
Prognosis
Survival Rate
Young Adult