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A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12
by
Lossos, Alexander
,
Baala, Lekbir
,
Soffer, Dov
,
Averbuch-Heller, Lea
,
Dotan, Shlomo
,
Munnich, Arnold
,
Lyonnet, Stanislas
,
Gomori, J. Moshe
,
Genem, Adnan
,
Neufeld, Meir
,
Abramsky, Oded
,
Zlotogora, Joel
,
Argov, Zohar
Published in
Brain (London, England : 1878)
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A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations
by
KEREM, E
,
RAVE-HAREL, N
,
GENEM, A
,
CHIBA-FALEK, O
,
KRAEMER, M. R
,
SIMON, A
,
BRANSKI, D
,
KEREM, B
,
AUGARTEN, A
,
MADGAR, I
,
NISSIM-RAFINIA, M
,
YAHAV, Y
,
GOSHEN, R
,
BENTUR, L
,
RIVLIN, J
,
AVIRAM, M
Published in
American journal of respiratory and critical care medicine
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American Journal Of Respiratory And Critical Care Medicine
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Brain
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Chromosome 17
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Chromosomes, Human, Pair 17 - Genetics
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Ck = Creatine Kinase
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Cystic Fibrosis - Classification
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Cystic Fibrosis Transmembrane Conductance Regulator - Genetics
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