Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 5, 2012, Pages 1225-1228

  Coutinho, Maria Francisca ^a,b,c   Santos, Liliana da Silva ^a   Girisha, Katta Mohan ^d   Satyamoorthy, Kapaettu ^e   Lacerda, Lúcia ^a   Prata, Maria João ^b,c   Alves, Sandra ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c Faculty of Sciences   (Portugal)

^d KASTURBA MEDICAL COLLEGE   (India)

^e MANIPAL UNIVERSITY   (India)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

BIRTH WEIGHT; BODY WEIGHT; CASE REPORT; CONSANGUINITY; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA ISOLATION; ENZYME BLOOD LEVEL; EXON; FACE DISORDER; FINGER MALFORMATION; GENETIC ASSOCIATION; GENETIC DISORDER; GINGIVA DISEASE; GNPTAB GENE; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HUMAN; HURLER SYNDROME; HYPERTROPHY; LETTER; MALE; MISSENSE MUTATION; MUCOLIPIDOSIS TYPE 2; MUTATIONAL ANALYSIS; MUTATOR GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; THORAX DISEASE; WRIST DISEASE;

BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; HOMOZYGOTE; HUMANS; MALE; MUCOLIPIDOSES; MUTATION, MISSENSE; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

EID: 84860010494     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35295     Document Type: Letter

References (10)

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