A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families

Clinical Genetics

Volumn 76, Issue 1, 2009, Pages 108-112

  Cotarelo, R P ^a   Fano, O ^a   Raducu, M ^a   Pena A ^a   Tarilonte, P ^a   Mateos, F ^b   Simon R ^b   Cabello, A ^b   Cruces, Jesús ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; GLYCOSYLTRANSFERASE; MESSENGER RNA; PROTEIN POMT1; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; CREATININE BLOOD LEVEL; EXON; EXON SKIPPING; FAMILY STUDY; GENE LOCATION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; INTRON; LETTER; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; RNA TRANSCRIPTION; SIBLING; WALKER WARBURG SYNDROME;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FAMILY; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MANNOSYLTRANSFERASES; MOLECULAR SEQUENCE DATA; MUSCLES; MUTATION; SPAIN; SYNDROME;

EID: 67650865957     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01188.x     Document Type: Letter

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