Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.
Jobard, Florence
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. [electronic resource] - Human molecular genetics Apr 2003 - 925-35 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0964-6906
10.1093/hmg/ddg097 doi
Adolescent
Adult
Blood Proteins--genetics
Cell Line
Child
Child, Preschool
Extracellular Matrix Proteins--genetics
Female
Humans
Male
Membrane Proteins
Molecular Sequence Data
Mutation
Neoplasm Proteins
Phosphoproteins--genetics
Photosensitivity Disorders--genetics
Reverse Transcriptase Polymerase Chain Reaction
Skin Diseases--genetics
Syndrome
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. [electronic resource] - Human molecular genetics Apr 2003 - 925-35 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0964-6906
10.1093/hmg/ddg097 doi
Adolescent
Adult
Blood Proteins--genetics
Cell Line
Child
Child, Preschool
Extracellular Matrix Proteins--genetics
Female
Humans
Male
Membrane Proteins
Molecular Sequence Data
Mutation
Neoplasm Proteins
Phosphoproteins--genetics
Photosensitivity Disorders--genetics
Reverse Transcriptase Polymerase Chain Reaction
Skin Diseases--genetics
Syndrome