A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing - Clinical characteristics of mutation carriers

European Journal of Medical Genetics

Volumn 59, Issue 2, 2016, Pages 75-79

  Szopa, Magdalena ^a,b   Ludwig Galezowska, Agnieszka H ^a,c   Radkowski, Piotr ^c   Skupien, Jan ^a,c   Machlowska, Julita ^c   Klupa, Tomasz ^a,b   Wolkow, Pawel ^c   Borowiec, Maciej ^d   Mlynarski, Wojciech ^d   Malecki, Maciej T ^a,b  

^a JAGIELLONIAN UNIVERSITY   (Poland)

^b UNIVERSITY HOSPITAL IN KRAKOW   (Poland)

^c Center for Medical Genomics OMICRON   (Poland)

^d MEDICAL UNIVERSITY OF LODZ   (Poland)

Author keywords

Diabetes; MODY; NEUROD1

Indexed keywords

ARGININE; NEUROGENIC DIFFERENTIATION FACTOR; PROLINE; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; NEUROD1 PROTEIN, HUMAN;

ARTICLE; CLINICAL FEATURE; DIABETES MELLITUS; DISEASE COURSE; DNA BINDING; GENE MUTATION; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; PEDIGREE; PROTEIN DOMAIN; AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; DOMINANT GENE; FEMALE; GENETICS; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; POLAND;

AMINO ACID SUBSTITUTION; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; DIABETES MELLITUS, TYPE 2; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; POLAND;

EID: 84958059475     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2016.01.002     Document Type: Article

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